Journalof Medica Genetic s

Journalof

Medica

Genetics

Editor: Peter S HarperNorth American Editor: P Michael Conneally (Indianapolis)Reviews Editor: Rodney Harris (Manchester)Cytogenetics Editor: A Schinzel (Zurich)Molecular Genetics Editor: Ann Harris (Oxford)Technical Editor: Clare Henderson

V Baranov (St Petersburg)D Timothy Bishop (Leeds)M H Breuning (Leiden)A Cao (Cagliari)David R Cox (San Francisco)A E Czeizel (Hungary)J P Fryns (Leuven)T Gedde-Dahl Jr (Tromso)Karl-Heinz Grzeschik (Marburg)Judith G Hall (Vancouver)A E Harding (London)M R Hayden (Vancouver)Patricia A Jacobs (Salisbury)Thaddeus E Kelly (Charlottesville)P McGuffin (Cardiff)

Victor A McKusick (Baltimore)Jean-Louis Mandel (Strasbourg)T Marteau (London)T Mazurczak (Warsaw)Margareta Mikkelsen (Copenhagen)Grant R Sutherland (Adelaide)N Tommerup (Copenhagen)G J B van Ommen (Leiden)Tessa Webb (Birmingham)Andrew 0 M Wilkie (Oxford)I D Young (Nottingham)Y T Zeng (Shanghai)Editor,

British Medical Journal

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NOTICE TO SUBSCRIBERSJournal of Medical Genetics is published monthly.The annual subscription rates are £187.00 (US$304-00). Orders should be sent to The Subscrip-tion Manager, Journal of Medical Genetics, BMAHouse, Tavistock Square, London WC1H 9JR.Orders can also be placed with any leading sub-scription agent or bookseller. (For the conve-

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retrieval system, or transmitted in any form or byany means, electronic, mechanical, photocopy-ing, recording or otherwise, without the priorpermission ofJournal of Medical Genetics.

ISSN 0022-2593

EDITORIALCOMMITTEE

Book reviews

age his mental age was evaluated as being 5months.

His feeding difficulty continued and hesuffered frequently from dehydration. His ab-domen, lumbar region, and pelvis remainedremarkably underdeveloped. His maximumlifetime weight was 6-9 kg aged 6 years 2months. Subsequently, he suffered repeatedlyfrom fever, vomiting, and dehydration anddied at the age of 8 years 7 months. Hisheight (crown to rump) at death was 49 0 cm,weight 4-96 kg, and head circumference48-2 cm. At necropsy, regurgitant oeso-

phagitis, a poorly developed small intestine,a small, thick walled (approximately 9 mm)urinary bladder, and small undescendedtestes were found.The ethics of keeping such a child alive for

eight years may seem to be questionable.However, passive euthanasia of such a case

as this patient would not be readily acceptablein Japan.

SHOZO OHDODepartment of Paediatnics,

National Sanatorium Miyazaki Hospital,Kawaminami 19403-4, Koyu-gun,

Miyazaki 889-13, Japan.TOHRU SONODAKEN-ICHI OHBA

Department of Paediatrics,Miyazaki Medical College,

Kihara 5200, Kiyotake-cho,Miyazaki 889-16, Japan.

1 Ohdo S, Madokoro H, Sonoda T, et al. As-sociation of tetra-amelia, ectodermal dysplasia,hypoplastic lacrimal ducts and sacs openingtowards the exterior, peculiar face, and de-velopmental retardation. Med Genet 1987;24:609-12.

BOOK REVIEWS

If you wish to order or require further in-formation regarding the titles reviewed here,please write to or telephone the BMJ Book-shop, PO Box 295, London WC1H 9JR. Tel071 383 6244. Fax 071 383 6662. Books are

supplied post free in the UK and for BFPOaddresses. Overseas customers should add15% for postage and packing. Payment canbe made by cheque in sterling drawn on aUK bank or by credit card (Mastercard, Visa,or American Express) stating card number,expiry date, and full name. (The price andavailability are occasionally subject to revisionby the Publishers.)

Genetics and Alcoholism. EvelyneDumont-Damien, Michel Duyme. Paris:Editions INSERM. 1993.

In the latter part of last century many heldthe view that alcoholism was inherited. Thependulum of opinion swung, and by the1960s there was little doubt in the minds ofthe great majority of its investigators that theorigin of alcoholism was psychosocial. Today,with the developing knowledge in biology andespecially in the genetics of behaviour, it ispossible to contemplate some genetic con-

tribution to its aetiology. For this several fac-tors are responsible. Numerous diseases areknown which result from a combination fo

genetic and environmental elements. For ex-ample, one parallel to alcoholism is cancer ofthe lung, where the environmental factor isclear but only a proportion of heavy smokersdevelop the disease. Genetic studies have be-come possible, for the alcoholism phenotypehas been better defined, and there are manygenetic markers which allow a search for thelocation of genes producing susceptibility toany disease.The authors of this book have drawn to-

gether almost all the accessible publicationson genetic studies of alcoholism and havereviewed them critically. Their object is tomake a balanced appraisal of present know-ledge. They envisage alcoholism as a complexbehavioural feature, and apply to it the meth-ods of genetic analysis of behaviour.

Immediately in chapter 1 the principalproblems that hinder genetic analysis aresquarely faced: problems of definition, meas-urement of the phenotype, lack of clarity ofthe underlying biological mechanisms, andtherefore of possible functional markers. Itconcerns types of alcoholics, aetiologicalmodels, measures of alcoholism, and the sev-eral hypotheses involving neurobiology. Thechapters that follow summarise the differenttypes of study.

Chapter 2 is devoted to family studies, ofwhich there are approximately 200, com-paring relatives of different degrees sharingsimilar family environments. They show fa-milial concentration of alcoholism, so thatthe risk is greater for a person, particularly fora male, who has numerous alcoholic relatives,and they suggest an aetiological heterogeneitymanifesting in variations in the precosity andseverity of the condition. The authors identifytopics on which future research could mostprofitably concentrate.

Chapter 3 draws together the numeroustwin studies, 34 published in the period 1939to 1991. These do not exclude genetic in-fluence and indeed strongly suggest to theauthors a multifactorial aetiology, the geneticcontribution to which is most apparent inmale twins who are alcohol dependent.The next chapter is devoted to adoption

studies, usually considered essential for dis-tinguishing genetic and enviromental effects.There have been about a dozen such studies,though the authors show that most of theseare biased and use research designs that arenot very informative. One finding emergesclearly from the subgroup of studies whichare less open to criticism, namely a link be-tween the biological father and his sonbrought up by adoptive parents. These sonsknew nothing of the behaviour of their bio-logical fathers; their biological mothers as wellas their two adoptive parents were effectivelynon-alcoholic. These findings do not ofcourse provide formal proof, but they favourthe hypothesis of a transmission of some gen-etic factor from the father to the son. Theresult supports the suggestion from the familyand twin studies that there is a dominatingmale influence.The studies in chapter 5 complement these

classical approaches, for they deal with sibsand half sibs brought up apart and unrelatedchildren brought up together. There are onlyfour studies of this type. Criticisms can belevelled at all, especially in the small numberof variables considered or the lack of rigourin their specification, so their findings canonly be taken as indications. But despite theirdrawbacks they support the interpretationfrom the investigations in the previous chap-ters that there is some genetic influence onalcoholism.

The crucial proof that there is a geneticcontribution to the aetiology of alcoholismwill come from the discovery of one or moremarkers, genes, or DNA segments. Thesearches for these have been numerous andthe authors restrict their survey to those stud-ies of characters whose chromosomal loc-ations are known. There are 140 such studies,covering more than 50 markers, the majoritybeing searches for association (to establishrelative risks) and only a few using linkage(to establish location). The studies as a whole,dealt with in chapter 6, show that to datethere is no certainty that any of the charactersanalysed is a marker for alcoholism. But thesestudies give valuable pointers to the meth-odological precautions to be taken and thepaths to be followed in future investigations.The book closes with a series of 14 ap-pendices, dealing in detail with key topicsmentioned in earlier chapters but where fullerconsideration would have interrupted the flowof the argument. These topics include forexample the principal definitions of al-coholism, its classification and typologies,clinical and biological indicators, and ae-tiological models of alcoholism proposed inthe period 1972 to 1988, ending with thoseof Donovan and of Radouco-Thomas. Thelist of some 850 references covers only thosepublished in English or French.The conclusions of the authors after their

critical examination of hundreds of publishedworks is that it is not yet definitely es-tablished that genetic differences betweenpersons account for their variation in be-haviour regarding the pathological taking ofalcohol. Nevertheless there are strong in-dications that at least in some persons thereis a genetic vulnerability to the abuse of,or dependence on, alcohol, especially maleswhose father and several ascendant relativeswere alcoholic. The task now for genetic epi-demiologists is to find the genes that pre-dispose to the different types of alcoholism.

This book is positively written. From itscritical appraisal of exisiting works, and theirlack of conclusive findings, it draws lessonsas to the points that future studies shouldattack and the methodological weaknessesthat should be avoided. It is moreover care-fully written, well balanced, well organised,a meticulous appraisal of the numerous worksexamined by the authors. It is the most com-prehensive survey ofthe subject yet produced,and one which any investigator of the subjectcannot afford to ignore.

D F ROBERTS

Diagnostic Criteria for NeuromuscularDisorders. Editor A E H Emery. (Pp 72.)UK: ENMC Publishing. 1994.

As Research Director for the EuropeanNeuromuscular Centre (ENMC), Baarn,The Netherlands, A E H Emery has par-ticipated in around 30 workshops designedto co-ordinate and encourage European re-search groups involved in the isolation andcharacterisation of the genes responsible fordiverse neuromuscular disorders. This pub-lication is introduced as a discussion docu-ment and presents, with some modifications,a series of articles which have appeared inNeuromuscular Disorders (Pergamon Press)setting out the diagnostic criteria proposed ateach workshop. At the times of a number of

981

Notices

the workshops, the relevant genes had beencloned and this is reflected in the relevantchapters; for instance the diagnosis ofDuchenne muscular dystrophy (DMD) isdefinite "where almost no dystrophin is dem-onstrable in a muscle biopsy specimen" orthere is "a Duchenne-type mutation withinthe dystrophin gene". Likewise the sectionon myotonic dystrophy lists amplification(>45) of the trinucleotide repeat sequence inthe DM-kinase gene on chromosome 19 inthe diagnostic criteria. There is an attemptin some chapters to comment on currentdiagnostic approaches for DNA analysis, forexample, multiplex PCR, SSCP, mRNA(RT-PCR), and most recently the protein trun-cation test in DMD; the shortened 4q35linked EcoRI fragment detected by pl3E-1 1in facioscapulohumeral muscular dystrophyand the chromosome 17pll.2 duplicationassociated with Charcot-Marie-Tooth diseasetype IA. In a text of only 72 pages the com-ments are of necessity brief and the reader isleft with the reference lists to identify furtherreading. The reference lists range from noentries (the section on Rare NeuromuscularDisorders) to 24 (Limb Girdle Muscular Dys-trophy) with two (Myotonic Dystrophy, Con-genital Muscular Dystrophy) citing singlereferences. The coverage ofpublished reportscould have been better standardised acrossthe sections and perhaps one or two keyclinical references could have been includedin each section.

It is unfortunate that some "chapters"begin with tables or lists (Duchenne/Beckerdystrophies, myotonic dystrophy, spinal mus-cular atrophy). The more traditional in-troduction to Limb Girdle MuscularDystrophy (K M Bushby) is eminently morereadable. Likewise the use of the ab-breviations "I", "E", and "C" for inclusioncriteria, exclusion criteria, and comments re-

spectively, in only some of the chapters isirritating. Putting aside these comments onformat, the answer to the question ofwhetherthis slim volume "will be useful to cliniciansand scientists engaged in this field of re-search" will depend on the individual person'sreason for consulting the chapters. The chap-ters are not intended to be reviews of theclinical manifestations nor of the applicationof molecular techniques to the diagnosis ofthese disorders. Unified clinical criteria forthe diagnosis of disorders are useful, par-ticularly in studies using linkage analysis,although the availability of computer pro-grammes such as the HOMOG series allows,to an extent, for genetic heterogeneity. Thechapters do present some fairly fundamentalfeatures on which the diagnosis of these dis-orders can be made but the layouts of thechapters do not make an easy format for useby a junior doctor faced with a patient witha neuromuscular problem.The contribution made by the ENMC to

furthering collaborations between the dis-parate research teams working on thesedisorders in Europe should not be un-derestimated. The standardisation of thediagnostic criteria to be used by these groupswhen identifying affected persons and fa-millies and when making resources availableto others was important. The publication ofsuch criteria (in Neuromuscular Disorders) en-abled them to be used as a standard referenceby the research groups and thus to cut downon unnecessary duplication in subsequent re-ports. This publication aims to make thesecriteria available to a wider audience. Un-fortunately the format and content of thechapters makes it difficult to identify who itwill best serve.

J C MACMILLAN

NOTICES

Call for Patients

Osteopetrosis. We are interested in findingthe genetic causes of osteopetrosis. If youknow of cases that could be available forDNA analysis, please contact Wim Van Hul,Department of Medical Genetics, Universityof Antwerp, Universiteitsplein 1, 2610 Ant-werp, Belgium. Tel (32) 3 820 25 85; fax(32) 3 820 25 66.

European School of Medical Genetics -8th course

This will be held in Sestri Levante (Genoa)on 19-25 March 1995. Directors: ProfessorVAMcKusick (Baltimore), Professor G Romeo(Genoa). Topics: Introduction to humanmolecular genetics, linkage analysis, cyto-genetics, population genetics, moleculargenetics, multifactorial diseases, clinical ge-netics, cancer genetics. Registration fee:420 000 Italian Lire. Applications: send yourCV, a brief description of your research in-terests, a letter of presentation (if you wishto present a clinical case during an eveningsession and to apply for a travel fellowship incase there are some available, please state itclearly in your covering letter), and a cer-tificate ofyour knowledge ofEnglish to: PaolaQuattrone, Laboratory of Molecular Ge-netics, Istituto G Gaslini, 16148 Genova,Italy. Tel: +39/10/5636370-400, fax +39/10/391254.

Fourth International Conference on Sys-temic Lupus Erythematosus (SLE)

This conference will be held in Jerusalem,Israel on 26-31 March 1995. For furtherinformation contact Professor Yehuda Shoen-feld, SLE Conference, PO Box 50006,Tel Aviv 61500, Israel. Tel: 972 3 5140014,fax: 972 3 5175674 or 972 3 660325, Email:100274.2665(CompuServe.COM.

982

983

VOLUME 31 * AUTHOR INDEX

KEY: E = Editorial: RA = Review Article: L = Letter: A = Abstract

ABBES S, 59, 165 (A)ABBS S, 843ABE M, 576ABEL L, 602AccILI D, 715ADINOLFI M, 679ADOLFSSON R, 686AGARwAL SS, 960AITKEN DA, 166 (A), 170 (A)AL-GAZALI L, 59, 165 (A)AL-GAZALI LI, 715AL-IMARA L, 164 (A), 745ALCARAZ M, 410ALDRED MA, 848ALI M, 499ALIQUO MC, 86 (L)ALLAN L, 172 (A)ALLEN N, 162 (A)AMARAL 0, 401AMATO A, 86 (L)AMBERGER JS, 265 (RA), 507 (RA), 903 (RA)ANDERSSON C, 351ANGELINI C, 880ANTONARAKIS SE, 534ANTONUCCI A, 804ARNDT I, 164 (A)ARONSON DC, 490ASPLUND K, 351ASTOLFI G, 171 (A)ATHERTON D, 745AlTIE T, 602AUDRAZET MP, 159, 731AUSEMS M, 168 (A)AYLSWORTH AS, 103AzIBI K, 342

BACHNER L, 342BACK E, 65BAIGET M, 76, 980 (L)BAINES P, 51BALL SE, 868BANCHS MI, 654BANKIER A, 644, 694BARAITSER M, 150BARANov A, 649BARANov VS, 649BARBER JCK, 312, 735BARBER L, 679BARLEY J, 172 (A)BARNES C, 468BARNES DM, 168 (A)BARNES P, 167 (A)BARRON L, 173 (A)BARTH ML, 663 (RA), 667, 672BARTON DE, 690, 749, 816, 174 (A)BARTSCH 0, 534, 707BASARAN S, 424 (L)BASTARD C, 260 (L)BAYER A, 197BECKMAN L, 351BECKMANN J, 342BEGEER JH, 242BEGGS AH, 79BEIGHTON P, 136BEKKER H, 364BELL JA, 170 (A)BELLER E, 405BENSON MD, 416BENTAHILA A, 342

BERGEN AAB, 580, 972BERGMANN M, 573BERGOFFEN J, 193, 518BERNASCONI F, 798BERRY E, 166 (A), 170 (A)BERTARIO L, 171 (A)BERTHET F, 798BETTECKEN T, 183BHAGAVAN NV, 355BHATTACHARYA SS, 848, 925BHOLA S, 168 (A)BIANCALANA V, 377BIANCo I, 86 (L)BIDICHANDANI SI, 174 (A)BIESECKER LG, 740 (L)BIJVOET SM, 622BINKERT F, 424 (L), 798BIRD AC, 848BIRJANDI F, 868BISHOP DF, 213BISHOP DT, 55, 627BISHOP T, 171 (A)BrrNER-GLINDZICZ M, 916BJARNADOTIR K, 618BLACKWOOD A, 172 (A)BLAKE D, 428BLANCO B, 74BLEEKER-WAGEMAKERS EM, 280BLEEKER-WAGEMAKERS LM, 972BOBROW M, 164 (A), 167 (A), 173 (A), 364, 679,

843, 864BODMER W, 888BODMER WF, 165 (A)BOHMANNiJ, 615BOILEAU C, 33BOKESOY I, 499BOLHUIS PA, 280BOLUND L, 234BONAIn-PELLIA C, 33, 429, 453BONARDOT AM, 541BONNEAU D, 602BONTEKOE CJM, 933BONTHRON DT, 163 (A), 167 (A), 169 (A), 170 (A),

607BOORMAN JG, 126BORDWELL K, 872BORUD 0, 360BoSMAN C, 168 (A)BOUE A, 76BoURN D, 168 (A)BOUTALEB N, 342BOWLES-BIESECKER B, 927BOWLES LV, 312BOXER M, 51, 174 (A)BoYD H, 201BOZON D, 541BRANDT CA, 99, 234BRASSEY J, 206BRECEVIC L, 798BREEDVELD GJ, 933BRIDGES AB, 51BRINCH-IVERSEN J, 99BROCK DJH, 162 (A), 167 (A), 175 (A)BROOK FA, 383BROWN G, 171 (A)BROWN GK, 41, 875BROWN J, 647BROWN RM, 41, 875BRUETON L, 167 (A), 170 (A)BRtrGGENWIRTH H, 595

Author index

BRUIN T, 622BRUNNER HG, 595BRUUN-PETERSEN G, 99BRYCE S, 675BUCKEL A, 173 (A)BUENO AL, 976BUENO M, 976BULLOCK S, 173 (A)BULOW S, 171 (A)BUNDEY S, 169 (A), 754, 848BURGE D, 735BURGER F, 761BuRL S, 174 (A)BURN J, 167 (A), 169 (A), 171 (A), 172 (A), 482,

925Buss PW, 726BUTLER LJ, 150Buys CHCM, 242

CALABRESE G, 804CALLANAN NP, 103CALZOLARI E, 171 (A)CAMERA A, 371CAMERA G, 371CAMERINI F, 766CAMPANELLA G, 133CAMPBELL EA, 635CAMPBELL KP, 342CAMPBELL R, 163 (A), 607CAMPBELL RA, 248CAMPION D, 260 (L)CAMPoS A, 632, 978CANKI KLAN NC, 731CAPPABIANCA MP, 86 (L)CARNEVALE A, 74CARNEVALE E, 965CARR AJ, 306CARR C, 166 (A)CARRERA M, 749CARSON DJ, 163 (A)CARTER N, 172 (A)CARTER NP, 164 (A)CARTER S, 675CARTER SA, 168 (A)CASALS T, 369CASHMAN S, 731CASSIDY SB, 830CASSIMAN JJ, 340CASTALDO I, 133CASTELLVi-BEL S, 654CAVALCANTI F, 133CHAMPOD C, 896 (L)CHANCELLOR AM, 175 (A)CHAPMAN P, 171 (A)CHARLESWORTH N, 174 (A)CHARLTON R, 172 (A)CHAUDARY MA, 458CHAZALETTE JP, 541CHEETHAM CM, 172 (A)CHEMKE J, 260 (L)CHEN B, 187CHEN SS, 81CHENEVIX-TRENCH G, 172 (A)CHEVALIER-PORST F, 541CHIAFFONI GP, 741 (L)CHILD A, 338CHILL6N M, 369CHIODO AA, 306CHOMPRET A, 429CHOTAI J, 686CHOW CW, 306CHU CE, 163 (A), 840CLARK C, 300CLARK LN, 165 (A)CLARK PA, 344, 717CLARKE A, 287, 785, 893CLARKE D, 175 (A)CLAUSTRES M, 84 (L)CLAYTON J, 162 (A)CLAYTON PT, 835CLINICAL GENETICS SOCIETY WORKING PARTY, 785

COATES PM, 551COBBEN JM, 242COCCHI G, 171 (A)COCHRANE S, 193COCKWELL AE, 528COCOZZA S, 133CODY LR, 355COELHO T, 293COETZEE GA, 172 (A)CoHN RJ, 868COLE TRP, 20COLE WG, 306COLLEY A, 738COLLEY P, 741 (L)COLLINS A, 944COLLINS AL, 505 (L), 528COLUMBANO-GREEN LM, 652CONNARTY M, 174 (A)CONNORJM, 163 (A), 166 (A), 170 (A), 174 (A),

175 (A), 840CoPP AJ, 383CoRRAL J, 654COSTA PMP, 351COSTA PP, 351COTTER PD, 213COTTRELL S, 165 (A)COWELL JK, 334Cox TM, 499CRAGG H, 659 (L)CRAUFURD D, 166 (A)CREMERS FPM, 916CREWS D, 172 (A)CROMBACH G, 962CROSS GS, 173 (A)CROSS I, 167 (A)CROSS NCP, 499CROSSLEYJA, 166 (A), 170 (A)CROW TJ, 690CRUICKSHANK K, 172 (A)CRUZ-COKE R, 702CULLEN R, 165 (A)CUMMINGS J, 171 (A)CUNNINGHAM C, 245CURRIE J, 325CURRY J, 694CURTIS A, 172 (A), 925CURTIS G, 950

DAAR S, 165 (A)DADASHEVA T, 209DAGAN R, 121DAHL N, 922DAHLITZ M, 175 (A), 478D'ALESSANDRO E, 413DALLAPICCOLA B, 238, 980 (L)DALLAPICOLLA B, 731D'AMATO T, 260 (L)DANESINO C, 238DANIELI GA, 880DANON YL, 853D'ARCANGELI N, 86 (L)D'ARRIGO C, 174 (A)DAUMERIE CH, 891DAVID A, 602DAVIDSON M, 173 (A)DAVIES AF, 679DAVIES K, 167 (A)DAVIES SJ, 85 (L), 486DAVISON BC, 172 (A)DAWSON G, 644DE ALWIS M, 717DE ANGELIS MS, 130DE ARCE M, 731DE DIE-SMULDERS CEM, 340, 595DE FRANCE H, 168 (A)DE JONGHE P, 811DE KOK Y, 916DE LA CHAPELLE A, 201DE MICHELE G, 133DE RAVEL TJ, 868DE SILVA D, 171 (A)

984

Author index

DE VISSER M, 242DE VRIES BBA, 820 (L)DEAN J, 51DEAN JCS, 171 (A)DECORTE R, 340DEHAUPAS I, 33DEL PORTO G, 413, 721DELEUZE J-F, 453DELEZOIDE A-L, 772DELHANTY JDA, 312DELISI LE, 690DEMAILLE J, 84 (L)DENNIS N, 950DENMS NR, 528DENNISS G, 364DESGEORGES M, 84 (L)DESOUZA M, 245DHORNE-POLLET S, 453Di BIAGIO P, 86 (L)DIGILIO MC, 238, 965DIKLIc V, 255DIXON JW, 652DJERNES B, 99DOCKERY HE, 108DODGE A, 166 (A)DOLAN TF, 493DOLLFUS S, 260 (L)DONALDSON MDC, 163 (A), 840DONNELLY J, 173 (A)DONNtR M, 167 (A)DONNERSTEIN RL, 830Dow E, 602DRAKE H, 164 (A), 864DRISCOLL DA, 741 (L)DROP SLS, 72DRYJA TP, 903 (RA)DUBOWITZ V, 843DUFIER J-L, 222DUNNILL MGS, 745DUROS C, 33

EADY RAJ, 745EASTON DF, 868ECCLES D, 944ECCLES DM, 312ECKERT WA, 442EDE RF, 312EDERY P, 602EDHOUSE JA, 168 (A)EDWARDS JH, 1 (RA)EELES RA, 458EISENSTEIN B, 121EL KERCH F, 342ELLES RG, 115ELLIOTT M, 560, 749ELLIS FR, 164 (A)ELLIS KH, 312ELMSLIE FV, 166 (A)ELSAWI MM, 468EMANUEL B, 741 (L)EMERY AEH, 420EMERY M, 420ENAYAT SM, 162 (A)ENG C, 458ENGERS R, 962ENGLISH C, 482ENGLISH CJ, 253, 647ENGSTROM C, 686ERICKSON RP, 830ESPEJO P, 410ESTABROOKS LL, 103ESTIBEIRO JP, 383ESTIVILL X, 369, 654, 731EVANS DGR, 168 (A)

FAED MJW, 51, 174 (A)FAGAN K, 738, 741 (L)FAGG NLK, 426 (L)FAHMI F, 141FAIRWEATHER ND, 193

FALASCHI A, 766FANTES J, 169 (A)FARAG TI, 505 (L)FARDEAU M, 342FARRALL M, 745FEIGIN A, 872FEIL R, 162 (A)FENSOM A, 663 (RA), 667FENSOM AH, 317FENTIMAN IS, 458FERAEDTS JPM, 595FEREC C, 159, 731FERGUSON-SMITH MA, 166 (A), 690FERGUSON-SMITH ME, 166 (A), 174 (A)FERNANDEZ JL, 632, 978FERNANDEZ-PIQUERAS J, 897 (L)FEWTRELL MS, 325FIELDING D, 785FILLA A, 133FISCHBECK KH, 193, 518FITCHES A, 59, 165 (A)FITCHETT M, 325FITZGERALD P, 59, 165 (A)FITZGERALD PH, 108FITZPATRICK DR, 126FITZSIMONS EJ, 213FLINTOFF W, 602FLORIDIA G, 238FOGLIETTA E, 86 (L)FOLKERS NRP, 156FONTES M, 344FORD D, 868FORREST SM, 644FORTE R, 721FORTINA P, 551FORTUNA AM, 401FRANCHI PG, 804FRANTS RR, 165 (A)FRANTZEN M, 534FRASER WD, 835FREZAL J, 222FRIAS jTL, 635FRIEDRICH U, 234FROSTER UG, 573FRYER AE, 145FRYNS JP, 340FURMAN-SHAHARABANI Y, 672

GADOTH N, 121GAFFNEY D, 248GARAGORRI JM, 976GARAmI GP, 171 (A)GARCiA DE LE6N R, 410GARDNER RJ, 164 (A)GARDNER RJM, 108GARRETT C, 170 (A)GARTY BZ, 121, 853GASCON GG, 953GAULT J, 287GEMIDJIOGLU E, 209GENET SA, 172 (A)GENNARELLI M, 980 (L)GENTILE T, 413GERBER S, 222GERTZ MA, 416GIACCA M, 766GIANNOrrI A, 238, 965GIBBIN KP, 740 (L)GiBSON RA, 868GIESELMANN V, 672GILLESSEN-KAESBACH G, 261 (L)GILLETT CE, 168 (A)GILLY R, 541GIMENEZ J, 369GIOLLANT M, 649GIORDANO M, 130GIRDLER N, 754GITZELMANN R, 499GOBBI P, 843GODWIN J, 148GOLDMAN A, 37

985

986 Author index

GOMEZ-LIRA M, 965GOMEZ MA, 410GONG W, 922GONG Y, 187GONZALEZ MORO L, 410GOODBURN S, 690GOODBURN SF, 166 (A)GOODSHIP J, 167 (A), 172 (A)GoODSHIP JA, 253GoRLIN RJ, 707GOSALVEZ J, 632GOSDEN CM, 169 (A), 607GOYANES V, 632, 978GRAHAM CA, 163 (A)GRiAHM GW, 170 (A)GRAHAM JM, 740 (L)GRATTAGLIANO B, 772GRAY ES, 171 (A)GRAY JR, 51GRAzIANI B, 86 (L)GRECO E, 86 (L)GREEN AJ, 164 (A), 174 (A), 816GREEN EP, 173 (A)GREENE SA, 840GREGORY DW, 171 (A)GRIMM T, 183GRIMSLEY LM, 150GUARDAMAGNA 0, 551GUEVARA-AGUIRRE J, 635GUIBAUD P, 772GUILBERT PR, 173 (A)GUILLERMIT H, 159Guo C, 187Guo Y, 187GUSELLA J, 872GUTTMACHER AE, 927

HABEX H, 340HADCHOUEL M, 453HADDAD GG, 493HAGELSTEEN J, 570HAIN J, 712HAITES NE, 193, 545HAITJEMA T, 933HALL CM, 423 (L)HALL JG, 1 (RA)HALL M, 675HALL NR, 627HALL-CURRAN JL, 164 (A)HALSALL PJ, 164 (A)HAMEL BCJ, 807HANNA EJ, 858HANNAN MA, 953HARDY C, 478HARDY CA, 175 (A)HARNASCH C, 65HARPER P, 165 (A)HARPER PS, 346HARRIS A, 663 (RA), 667, 672HARRIs R, 115, 166 (A)HART TC, 758HARVEY J, 174 (A)HAVENGA C, 868HAWKE S, 167 (A)HAYANI A, 148HAYDEN MR, 622HAYDON J, 165 (A)HAYWARD C, 162 (A)HAYWARD NK, 261 (L)HEAF D, 145HEALICON R, 482HEIJ HA, 490HELMBOLD EA, 927HENNEKAM R, 168 (A)HENNEKAM RCM, 248, 321, 898 (L)HERMAN G, 922HERMAN TE, 85 (L)HERTEL T, 167 (A)HERVA R, 521HEUTINK P, 462, 933HEWETT DR, 338

HEWETT E, 754HEWITT JE, 165 (A)HEWITT M, 740 (L)HIGUCHI I, 397HILL FGH, 162 (A)HILTON JMN, 306HILTON-JONES D, 41HINDKJNR J, 99HINO Y, 257HIRST MC, 173 (A)HIRVASNIEMI A, 177HOCHEZ J, 429HOCKEY A, 306HODGKINSON KA, 115HODGSON S, 888HODGSON SV, 55, 165 (A), 168 (A), 426 (L), 458,

843HOFMANN-RADVANYI H, 33HOLDER SE, 150HOLLOWAY S, 175 (A)HOLMBERG BH, 435HOLMBERG L, 167 (A)HOLMGREN G, 351, 435HONE J, 715HOPKIN J, 41HOPKINS PM, 164 (A)HORDIJK R, 156HoRN N, 615HORSLEN SP, 62HORSTHEMKE B, 261 (L)HOSIE KB, 168 (A)HOULSTON RS, 884HOVERS V, 595HovI E, 201HovIuS SER, 462HOWELL RT, 206HOWLER CJ, 595Hu LJ, 922HUBER I, 916HUGHES HE, 20, 85 (L), 486HUGHES HN, 173 (A)HULTEN M, 165 (A)HUMPHRIES M, 169 (A)HUSON S, 167 (A), 171 (A)HUSON SM, 172 (A), 325HUSSEIN SS, 868HUTCHEON RG, 141

IANNACCONE A, 721IOLASCON A, 551IRONTON R, 884IVANOVIC K, 255IVASCHENKO T, 649IZQUIERDO L, 153

JACKSON A, 253JACKSON CE, 927JACOBS HJJ, 72JACOBS PA, 163 (A), 528JAJU R, 334JAMES RS, 163 (A), 735, 884JAN D, 602JANIN N, 222JANSEN S, 868JANSSEN B, 933JARDINE P, 165 (A)JARDINE PE, 213JAY B, 55, 848JAY M, 848JEFFERY S, 169 (A), 172 (A), 173 (A)JEFFREY I, 169 (A)JEHANNE M, 159JENKINS T, 37JENKS P, 174 (A), 816JIANG Y, 187JIMENEZ A, 976JOFFE G, 153JOHNSON K, 33, 397JOHNSON SA, 213JONES AM, 717

Author index

JONES B, 219JONES CT, 175 (A)JONES EW, 328JONES M, 287JOURNEL H, 602JUNG C, 65, 442JUNIEN C, 33

KAARIAINEN H, 201KAFFE S, 121KAISER F, 197KALAYDJIEVA L, 731KAMINISHI Y, 397KANT J, 518KAPLAN J, 222KAPLAN J-C, 342KAPRANOV N, 731KARBANI GA, 162 (A)KASCHEEVA T, 649KASTE J, 201KASTELEIN JP, 622KATZ F, 717KEELING JW, 823KEIGHLEY M, 165 (A)KELLY K, 300KELLY KF, 545KELNAR CJH, 840KEMPSKI H, 334KENNEDY C, 738KENNEDY CR, 505 (L)KERR B, 245KERZIN-STORRAR L, 785KESTELYN PH, 580KIEBURTZ K, 872KILPATRICK M, 478KILPATRICK MW, 175 (A)KING SK, 172 (A)KINNON C, 344, 717KIOSCHIS P, 922KJ&R I, 823KLUFIO G, 468KNUIST M, 490KOHLER A, 712KORENBERGH J, 172 (A)KOYAMA K, 257KRAJINOVIC M, 255, 766KREBBERS A, 168 (A)KRESS W, 84 (L)KRISHNAN SN, 493KROES HY, 156KROOK A, 170 (A)KRUSE K, 84 (L)KRUYER H, 654KULA R, 405KULIEV AM, 209KUNKELER L, 675KuNo C, 331KUZNETZOVA T, 649KYRKANIDES S, 758

LACERDA L, 401LACOMBE D, 602LADDA RL, 68LAMB AN, 103LANCEVA OE, 649LANE DP, 168 (A)LANG H, 177LANNOY N, 891LANTIGUA A, 86 (L)LANYON WG, 174 (A), 175 (A)LAOR A, 853LAPORTE J, 922LARSSON C, 261 (L)LAuRENT C, 260 (L)LAUSSEL M, 84 (L)IAVEDAN C, 33LE BIHAN C, 429LE MERRER M, 602, 772LEAO M, 969LEBEAU M, 148

LEGGO J, 690LEGIUS E, 340LEGRIS M, 875LEHESJOKI A-E, 177, 201LEISTI J, 177LEMERLE J, 429LENNON F, 927LERONE M, 86 (L)LESTER T, 344, 717LESTIENNE P, 45LESTRINGANT G, 715LETURCQ F, 342LEVINSKY RJ, 717LEYLAND KG, 505 (L)LEYS M, 580LIBURD T, 170 (A)LIDDELL M, 197LIEBAERS I, 731LIECHTI-GALLATI S, 183LIGAS C, 413LIMBURG M, 898 (L)LINDHOUT D, 462LINDLEY V, 173 (A)LIPSON A, 741 (L)LISSENS W, 731LITTLE S, 173 (A)LLERENA JC, 868LLINARES C, 897 (L)LLoYD JC, 164 (A)Lo RE ML, 413LOEZA F, 74LOFTHOUSE R, 690LOS FJ, 72LOUGHNA SC, 175 (A)LOURENCO E, 293LOWE GDO, 174 (A)LOWRY M, 253LUCE S, 33LUNT P, 165 (A)LUNT PW, 170 (A), 213LYLE R, 165 (A)LYNCH JR, 338LYNGBYE T, 234LYONNET S, 602

MCALLISTER KA, 927MACDERMOT K, 168 (A)McDERMoTT A, 206MCDERMOTT K, 169 (A)MACDONALD F, 165 (A)MACDONALD M, 872MCDONALD-MCGINN D, 518MCDONALD VJ, 170 (A)MCFADDEN N, 570MCGEOCH C, 168 (A)MACGREGOR G, 172 (A)MACKENZIE NG, 652MCKEOWN C, 165 (A)MCKINNON D, 170 (A)MCKINNON WC, 927McKuSICK VA, 265 (RA), 507 (RA), 903 (RA)MACPHERSON J, 163 (A), 950MACRI JN, 170 (A)MAGEE AC, 169 (A)MAGNANI C, 171 (A)MAHER ER, 560, 749MAHONEY MJ, 493MAJEWSKI F, 962MALCOLM S, 219, 916MALE BM, 312MALET P, 649MALLET J, 260 (L)MALLICK NP, 115MANDEL J-L, 377MANDEL JL, 922MANDEL M, 355MAOJ, 153MARCANIO MP, 413MARCHUK D, 925MARCHUK DA, 927

987

MARG W, 615MARINO M, 804MARKANDU N, 172 (A)MARKEL DS, 927MARKOUIZOS D, 405MARuLow A, 944MAROTEAUX P, 772MARTEAU T, 364, 864MARTEAU TM, 164 (A), 743 (E)MARTIN J-J, 811MARTiNEZ-FRiAS ML, 410MARTINEZ M, 260 (L)MARTORELL L, 980 (L)MARYNEN P, 340MASON JDT, 740 (L)MASTERS KG, 647MATHERS J, 171 (A)MATHEW C, 167 (A)MATHEW CG, 173 (A), 868MATHIEU M, 541MATILLA T, 654MATSUMURA M, 331MATsuo N, 349 (L)MATTHEWS PM, 41MAu G, 534MAY A, 170 (A)MAYNE V, 565MEIJERS C, 602MEIRE F, 580MELONI A, 209MELONI R, 260 (L)MENG C, 81MENG G, 183MERCIER B, 159, 731MERLINI L, 880MERLOB P, 423 (L)MESCHEDE D, 573MESSELINK EJ, 490MESTRONI L, 255, 766MIDDLETON-PRICE H, 785MIDDLETON-PRICE HR, 172 (A)MIEDZYBRODZKA ZH, 545MIELOo H, 807MIKELSAAR R, 424 (L)MIKI T, 397MIKKELSEN M, 534MILA M, 654MILAN M, 171 (A)MILANA G, 745MILLER M, 172 (A)MILNER RD, 868MILTON PJD, 166 (A)MINGARELLI R, 238, 804MIRANDOLLE JF, 595MITCHELL LE, 425 (L)MODA Y, 257MODELL B, 209MODELL M, 364MOHAMMED S, 458MOHAMMED SN, 168 (A)MOLENAAR WM, 242MOLINA M, 76MOLLICA F, 745MOLNAR Z, 148MOMMA A, 167 (A)MONACO AP, 193MONTGOMERY J, 785MONTICELLI A, 133MOORE GE, 175 (A)MORENO RS, 702MORIZIo E, 804MORNET E, 76MORRISON K, 167 (A)MORRISON PJ, 166 (A)MORTEN K, 171 (A)MORTON D, 165 (A)MORTON J, 165 (A)MORTON NE, 944MOSS D, 652MOSTACCIUOLO ML, 193, 880MOTA HC, 820 (L)MOTTES M, 965

MOULLIER P, 159MOUNTFORD R, 174 (A)MOUTOU C, 429MUELLER RF, 162 (A), 471, 937MULLENER R, 206MULLER B, 183, 388MULLER B, 287MULLER CR, 183MtLLER E, 193MULLER U, 712MULLIGAN LM, 325, 602MUNARO M, 133MUNNICH A, 222, 602MUNRO CS, 675MUNTONI F, 843MURDAY V, 458MURDAY VA, 627MURER-ORLANDO M, 679, 868MUROI J, 331MUTANI R, 130MUYLLE L, 811

NAKAGAWA M, 397NAOR N, 423 (L)NARAYAN D, 493NARCY F, 772NELIS E, 435, 811NELSON I, 45NELSON J, 858NEOPTOLEMOS J, 165 (A)NEVIN NC, 163 (A), 166 (A), 169 (A), 858NEWBURY-ECOB RA, 168 (A)NEWSOM-DAVIS J, 167 (A)NEWTON JA, 627NIELSEN I-M, 45NIERMEIJER MF, 820 (L)NIESCHLAG E, 573NIHOUL-FtKETE C, 602NIKOLIS J, 255NILSSEN 0, 360NOBLE JS, 937NORBURY G, 171 (A)NoRBY S, 45NORDENSKJOLD M, 261 (L)NORWOOD FLM, 164 (A)NOVELLI G, 731, 980 (L)NUGENT KP, 165 (A)NUNES V, 369NYLANDER P-O, 351, 686

O'BRIEN J, 659 (L)ODENT S, 222O'DONOGHUE DJ, 115OGATA T, 349 (L)OGLE R, 245OGUNLESI A, 172 (A)OHBA K-I, 980 (L)OHDO S, 980 (L)OKUNO T, 331OLAFSDOTTIR GH, 618OLD J, 165 (A)OLD JM, 59OLIVAN G, 976O'LOUGHLIN J, 206OOSTERWIJK JC, 85 (L)OOSTRA BA, 462, 933OOSTRA RJ, 280ORBAN T, 715O'REILLY MAR, 423 (L)ORMEROD E, 570ORSTAVIK KH, 570OSAME M, 397OTERO LJ, 875OUDE LUTTIKHUIS MEM, 835OWEN M, 197

PACK K, 165 (A), 888PADovANI EM, 741 (L)PALACIO A, 731

988 Author index

Author index

PALKA G, 804PALMER RW, 150PALs G, 898 (L)PANDOLFO M, 133PANNARALE MR, 721PARENT P, 602PARFITT RG, 108, 652PARRELLA T, 551PATCH C, 163 (A), 174 (A)PATERSON WF, 840PATIL K, 635PATTON MA, 169 (A), 173 (A), 468PAYNE H, 785PEARSON J, 174 (A), 816PEARSON T, 868PEDERSEN S, 99, 234PEILA R, 804PEISSEL B, 741 (L)PELET A, 602PEMBREY ME, 916PERALTA EM, 86 (L)PEREIRA S, 632, 978PEREZ DE CASTRO I, 897 (L)PERICAK-VANCE MA, 927PERKOVIC T, 175 (A)PERROTTA S, 551PETERLIN B, 175 (A)PETERSEN CE, 355PETERSEN MB, 99, 534PETROU M, 209PHADKE SR, 960PHILIP N, 602PHILLIPS R, 888PHILLIPS RKS, 165 (A)PIANESE L, 133PIERPONT JW, 830PIGNATTI PF, 741 (L), 965PIKE D, 171 (A)PILCHER G, 172 (A)PILZ D, 328PINAMONTI B, 766PINDAR L, 173 (A)PLAucHu H, 602PLYTE S, 167 (A)PODRUMAC B, 175 (A)PONDER BAJ, 458, 602PONZrNI D, 86 (L)POPE FM, 164 (A), 745PORTEOUS MEM, 170 (A), 925POST-BLOK C, 168 (A)POSTEL-VINAY A, 222POULTON J, 171 (A)POUSTKA A, 922PRICE J, 167 (A)PRINGLE T, 51PROCTOR SR, 162 (A)PRYOR JP, 468PURANDARE SM, 175 (A)

QAzI QH, 405QUAIFE R, 59, 165 (A)QUAARRELL 0, 168 (A)QUARRELL OWJ, 62, 328QuERE I, 159, 731

RAAL D, 172 (A)RABES J-P, 33RAE AL, 162 (A)RAEBURN JA, 173 (A)RAGGATT PR, 166 (A)RAGUENES 0, 159, 731RAHILLY S, 170 (A)RAINE PAM, 126RAMALHEIRA J, 293RAMENGHI L, 804RAMER JC, 68RAMOS FJ, 976RAMSAY M, 37RAO C, 405RAO KW, 103

RASULOV IMR, 209RAULT G, 159RAVIKUMAR TS, 493READ A, 174 (A)READ AP, 115REARDON W, 219, 393, 916REDMOND RM, 848REDOLFI E, 133REED MW, 168 (A)REES JL, 675REIK W, 162 (A)REIMER N, 355RENSHAW RM, 884RIBEIRO DA SILVA ML, 969RICHARDS AJ, 164 (A), 745RICHIARDI PM, 130RIMMER S, 115RINALDI S, 86 (L)RINDL P, 165 (A)RITANEN-MOHAMMED U-M, 201ROBERTS A, 172 (A)ROBERTS I, 868ROBERTS R, 843ROBERTS RG, 164 (A)ROBERTSON ME, 170 (A)ROBINSON D, 505 (L)ROBINSON WP, 424 (L), 798RODDICK L, 738ROGERS JG, 565ROHDE K, 448ROLLIN B, 84 (L)ROMAIN DR, 108, 652ROPERS H-H, 916ROSATELLI C, 209ROSE C, 219ROSENBLOOM AL, 635ROSENFELD PJ, 903 (RA)ROSS S, 167 (A)ROSSETTI S, 741 (L)ROSSI C, 804ROYLE G, 944RUBINSZTEIN DC, 172 (A), 690RUDNIK-SCHONEBORN S, 497RUSTIN MHA, 168 (A)RYSIECKI G, 754

SA MIRANDA MC, 401SAAD A, 667SAAD F, 880SABA L, 209SABRY MA, 897 (L)SAGNELLA G, 172 (A)ST CLAIR D, 658 (L)SAmz-RUIz J, 897 (L)SAMA A, 740 (L)SAMOLYK D, 260 (L)SAMSON F, 922SANDBANK J, 121SANDHU SK, 843SANDKUIJL LA, 933SANGALLI A, 965SANTIBANEZ KOREF MF, 448SARAivA JM, 820 (L)SARAVA MJM, 351SARDA P, 602SARRiA A, 976SARTORE M, 551SAVITSKY GA, 649SAVOIA A, 868SAVOV A, 731SAVOY D, 33SAvOYE C, 260 (L)SAYEE R, 418SCAMBLER P, 167 (A)SCHAAPS J-P, 772SCHAEFER GB, 635SCHEFFER H, 242SCHIACH C, 174 (A)SCHIAVON F, 880SCHINZEL AA, 424 (L), 798

989

SCHMALBRUCH H, 45SCHMERLER S, 141SCHOFIELD PN, 749SCHUSTER V, 84 (L)SCHWARTZ M, 167 (A)SCHWARZ EI, 209SCHWINGER E, 534, 707SCIARRA A, 721SCOBIE N, 108SCOTTOLINI AG, 355SCRIMGEOUR EM, 819 (L)SEAL S, 458SEARLE AG, 1 (RA)SEAVER LH, 830SEFIANI A, 342SEFTEL H, 172 (A)SELLER A, 171 (A), 172 (A)SEo H-C, 659 (L)SEVERINI GM, 766SEWRY C, 843SHANKLEMAN J, 170 (A)SHAo C, 187SHARIF AL, 173 (A)SHARMA AK, 960SHAVANTHI L, 418SHAW JH, 644SHAW RL, 108SHEFFIELD LJ, 659 (L), 694SHEIKH T, 405SHELBOURNE P, 33SHENG Q, 81SHEPHERD JJ, 261 (L)SHERRATT T, 843SHIBUTA K, 576SHIH C, 872SHIMIzu K, 331SHIRLEY D, 167 (A)SHORTHOUSE AJ, 168 (A)SHOULSON I, 872SHPRINTZEN RJ, 423 (L)SICILIANO G, 880SIGUT D, 953SIGVALDASON H, 618SILLENCE D, 245SILVER A, 167 (A)SIMONOFF E, 785SIMPSON SA, 173 (A)SjO 0, 45SKIRTON H, 170 (A)SLADKY J, 518SLANEY S, 172 (A)SLANEY SF, 694SLATER H, 644SLATTER RE, 749SMAIL PJ, 840SMALLEY SL, 761SMEETS DFCM, 807SMEETS HJM, 595SMITH IJ, 162 (A)SMITH K, 694SMITH M, 761SMITH N, 173 (A)SMITH-RAVIN J, 165 (A), 888SMITH SJL, 169 (A)SMYTHE RH, 652SNIJDERS PJLM, 462SNOWDEN JS, 166 (A)SONE A, 257SONODA T, 980 (L)SONOMuRA T, 331SOTACK J, 872SOUSA A, 293SPENCER K, 170 (A)SPRATT HC, 505 (L)SQUIFFLET J-P, 891SRIDEVI H, 418SRINIDHI J, 872STEEN L, 351STEINBERG K, 872STEINBERG SJ, 317STEINDL K, 721STELLA G, 371

STEPHENSON A, 675STEPHENSON JBP, 41STEVENS HP, 168 (A)STEWART A, 166 (A)STEWART AD, 164 (A)STEWART FJ, 163 (A)STIRN E, 175 (A)STORNI V, 159STRACHAN T, 168 (A), 675STRAIN L, 167 (A), 170 (A)STROMKJ&R H, 99STUHLMANN I, 534STUPPIA L, 804SUAREZ CR, 148SUMMERS D, 916SUN J, 81SUN Q, 187SURREY S, 551SUZUKI T, 576SWALLOW D, 659 (L)SYKES BC, 338

TAHOON SA, 819 (L)TAHVANAINEN E, 79TAKAHASHI Y, 331TAKAo A, 167 (A)TALBOT IC, 426 (L)TAM PKH, 325TANAKA H, 257TANNER MS, 62TARONI F, 896 (L)TAY SKS, 888TAYLOR GR, 937TAYLOR J, 167 (A), 843TAYLOR R, 169 (A), 173 (A)TAYLOR SI, 715TEAGUE PW, 848TEARE MD, 448TEEBI AS, 224, 493TEH BT, 261 (L)TEIXEIRA A, 351TEJADA MI, 76TEMPLE IK, 162 (A), 163 (A), 735, 884TEN BRINK JB, 972TEN KATE LP, 156, 242THEIN S, 165 (A)THEOPHILUS BDM, 162 (A)THOMAS HM, 145THOMAS IM, 418THOMAS NST, 287, 922THOMPSON E, 167 (A)THOMSON AH, 325THORNE S, 206TIMMERMAN V, 811TnZZANO E, 76TODD PJ, 145TOLLERSRUD OK, 360TOME FMS, 342TONNESEN T, 615TOPF K, 740 (L)TORRES P, 897 (L)TOURNADE M-F, 429TRANEBJ&RG L, 360TREMBATH RC, 779, 835TROMMELEN JCM, 807TROTTIER Y, 377TRYGGVADOTTIR L, 618TUERLINGS JHAM, 156TULINIUS H, 618TUMER Z, 615TUMEWU P, 108TUNrMAN G, 499TURCO AE, 741 (L)TURNER G, 168 (A)TURNPENNY P, 300TURNPENNY PD, 171 (A)TUZGOL S, 622TYFIELD L, 213TYLER A, 785TYMPNER K-D, 707

990 Author index

Author index

UCCELLATORE F, 238UEMICHI T, 416ULLRICH F, 635UPADHYAYA M, 165 (A)UPENDER M, 493

VAKHARLOVSKY V, 649VALLER D, 59, 165 (A)VAN BALKOM IDC, 321VAN BROECKHOVEN C, 435, 811VAN BUGGENHOUT GJCM, 807VAN DER HAGEN CB, 570VAN DER STEEGE G, 242VAN DER WESTHUYZEN DR, 172 (A)VAN DONGEN JJM, 72VAN HEMEL JO, 72vAN HERWERDEN L, 219VAN OMMEN GJ, 242VAN SCHOONEVELD MJ, 972VARRONE S, 133VASEN H, 171 (A)VASILY DB, 68VERBRAAK F, 340VERELLEN-DUMOULIN CH, 891VERELLEN G, 891VERLINGUE C, 159VERLOES A, 602, 772VICKERS S, 478VIDAILHET M, 499VILJOEN D, 640VILLARD L, 344VINCENT A, 167 (A)VINET M-C, 342VINGOLO EM, 721VON FIGuRA K, 672VORECHOVSKY I, 868Vos A, 490VOULLAIRE L, 694VuoPALA K, 521

WAGHRAY M, 953WAHLSTROM J, 686WALKER A, 173 (A)WALKER D, 388WALLGREN-PETTERSSON C, 79WALLIS Y, 165 (A)WALTER J, 162 (A)WALTERS MK, 261 (L)WALTHER J-U, 164 (A)WANG MR, 649WANG Q 173 (A)WANG Y, 81WARBURG M, 45WARD C, 667WARD CP, 317WARD H, 166 (A)WATKISS E, 169 (A), 754WArT AJ, 108WATTERS EA, 115

WEBB T, 169 (A), 175 (A), 478, 585 (RA), 754WEBER BHF, 388WEI J, 187WELHAM K, 749WELLESLEY D, 694WEST SP, 164 (A)WESTERBERG B, 435WESTERMAN CJJ, 933WIJBURG FA, 280WIJMENGA C, 165 (A)WILGENBUS KK, 962WILKIE A, 744WILKIE AOM, 89 (RA), 507 (RA)WILKINSON M, 426 (L)WILKINSON S, 261 (L)WILLIAMS J, 197WILLIAMS MAT, 627WILLIAMS 0, 925WILLIAMSON R, 165 (A), 602WILSON D, 167 (A)WILSON L, 172 (A)WILSON LC, 779, 835WINCHESTER B, 659 (L)WINSHIP I, 745WINTER RM, 166 (A), 219, 393WITHERS AP, 174 (A)WOLF GC, 153WOLFF G, 65, 442WOLSTENHOLME J, 253, 647WOODS CG, 565, 659 (L), 694WRIGHT AF, 848WRIGHT C, 482, 647WRIGHT TJ, 165 (A)WUILLOUD A, 798

YAHYAOUI M, 342YAMADA H, 397YATES JRW, 164 (A), 166 (A), 174 (A), 816YIN Z, 545YORIFUJI T, 331YOUNG I, 744YOUNG ID, 740 (L)Yu LL, 81

ZACKAI EH, 518ZAWAWI TH, 819 (L)ZERRES K, 497ZGURICAS J, 462ZIMMERHACKL B, 65ZIMMERMAN C, 872ZIMMERMANN E, 65ZLOTOGORA J, 672, 957ZOMPATORI L, 721ZONANA J, 287ZORN-ENDE G, 280ZSCHOCKER J, 163 (A)ZUCKER J-M, 429ZUFFARDI 0, 238

991

992

VOLUME 31 * SUBJECT INDEX

Achondroplasia, Two sibs who are double heterozygotesfor achondroplasia and pseudoachondroplastic dys-plasia, 565

Adenomatous polyposis coliAdenomatous polyposis coli and a cytogenetic de-

letion of chromosome 5 resulting from a maternalintrachromosomal insertion, 312

APC mutation associated with late onset of familialadenomatous polyposis, 888

CAPP Study: a new European concerted action topermit placebo controlled trials in carriers of fa-milial adenomatous polyposis, 171 abs

Genetic heterogeneity of congenital hypertrophy ofthe retinal pigment epithelium (CHRPE) in familieswith familial adenomatous polyposis, 55

Improved screening for FAP: experience from theWest Midlands FAP register, 165 abs

Mutation analysis in familial adenomatous polyposis:partial prediction of phenotype, 165 abs

Presymptomatic diagnosis in families with ad-enomatous polyposis using highly polymorphic di-nucleotide CA repeat markers flanking the APCgene, 442

Adult polycystic kidney disease, Diagnosis of adultpolycystic kidney disease by genetic markers andultrasonographic imaging in a voluntary family re-gister, 115

African Negroids, Absence of myotonic dystrophy insouthern African Negroids is associated with asignificantly lower number of CTG trinucleotiderepeats, 37

Aganglionic megacolon, A newborn with ring chro-mosome 10, aganglionic megacolon, and renal hy-poplasia, 804

Alagille syndrome, Segregation analysis of Alagille syn-drome, 453

Albright's hereditary osteodystrophyAlbright's hereditary osteodystrophy: syndrome of the

month, 779Parental origin of Gsot gene mutations in Albright's

hereditary osteodystrophy, 835Parental origin of transcription from the humanGNAS1 gene, 163: abs, 607

Paternal and maternal transmission of pseudo-hypoparathyroidism type Ia in a family with Al-bright hereditary osteodystrophy: no evidence ofgenomic imprinting: letter, 84

Albumin, A point mutation in the human serum albumingene results in familial dysalbuminaemic hy-perthyroxinaemia, 355

Aldolase B gene, Null alleles of the aldolase B gene inpatients with hereditary fructose intolerance, 499

Aldosterone, Angiotensin I converting enzyme poly-morphism in different groups and its associationwith hypertension, plasma renin activity, and al-dosterone, 172 abs

Alphafetoprotein, Impact of screening using maternalserum AFP and hCG on the birth incidence ofDown's syndrome in the west of Scotland, 166abs

Alzheimer's disease, Confirmation of association be-tween the e4 allele of apolipoprotein E and Alz-heimer's disease, 197

Aminolaevulinate synthase, Pyridoxine-refractory con-genital sideroblastic anaemia with evidence forautosomal inheritance: exclusion of linkage toALAS2 at Xpl 1.21 by polymorphism analysis,

213Amnion rupture sequence, Diagnostic distinction be-

tween anencephaly and amnion rupture sequencebased on skeletal analysis, 823

Amplification mismatch analysis, Amplification mis-match analysis as a method of screening for mut-ations in genetic disorders, 162 abs

Amyloid polyneuropathyAmyloid polyneuropathy in two German-American

families: a new transthyretin variant (Val 107),416

Geographical distribution of TTR met30 carriers innorthern Sweden: discrepancy between carrier fre-quency and prevalence rate, 351

Amyotrophic lateral sclerosis, Identification of the su-peroxide dismutase (SOD 1) Ile113Thr mutationin three unrelated amyotrophic lateral sclerosispatients, 175 abs

Anchoring fibril abnormalities, Genetic linkage to thetype VII collagen gene (COL7A1) in 26 familieswith generalised recessive dystrophic epidermolysisbullosa and anchoring fibril abnormalities, 745

Anderson-Fabry disease, X inactivation studies in And-erson-Fabry disease and X linked ectodermal dys-plasia, 169 abs

AnencephalyDiagnostic distinction between anencephaly and am-

nion rupture sequence based on skeletal analysis,823

Female predisposition to cranial neural tube defectsis not because of a difference between the sexes inthe rate of embryonic growth or development dur-ing neurulation, 383

Aneurysms, 3-M syndrome and intracerebral an-eurysms: letter, 898

Angiotensin I converting enzyme, Angiotensin I con-verting enzyme polymorphism in different groupsand its association with hypertension, plasma reninactivity, and aldosterone, 172 abs

Anophthalmia, Anophthalmia with cleft palate and mi-crognathia: a new syndrome?, 960

Anticipation, Anticipation in Swedish families with bi-polar affective disorder, 686

APC gene, Deletions of the entire APC gene are as-sociated with sessile colonic adenomas: letter, 426

APC mutation, APC mutation associated with late onsetof familial adenomatous polyposis, 888

ApolipoproteinApolipoprotein CII-Padova (Tyr37 --stop) as a cause

of chylomicronaemia in an Italian kindred fromSiculiana, 622

Characterisation of six patients who are double het-erozygotes for familial hypercholesterolaemia andfamilial defective apolipoprotein B-100, 172 abs

Confirmation of association between the e4 allele ofapolipoprotein E and Alzheimer's disease, 197

Arachnodactyly, Congenital contractural arachno-dactyly (Beals syndrome): syndrome of the month,640

ARC syndrome, Liver histology in the arthrogryposismultiplex congenita, renal dysfunction, and chol-estasis (ARC) syndrome, 62: letter, 820

ARMS test, An investigation of sample taking techniquefor the ARMS cystic fibrosis test, 173 abs

Art, Genetics in art, 420Arthrogryposis, Lethal congenital contracture syn-

drome: further delineation and genetic aspects,521

Arthrogryposis multiplex congenita, Liver histology inthe arthrogryposis multiplex congenita, renal dys-function, and cholestasis (ARC) syndrome, 62:letter, 820

Arylsulphatase A gene, The arylsulphatase A gene andmolecular genetics of metachromatic leuco-dystrophy: review article, 663

Arylsulphatase A pseudodeficiency, Frequency of aryl-sulphatase A pseudodeficiency associated mut-ations in a healthy population, 667

Aspartylglucosaminuria, Aspartylglucosaminuria innorthern Norway: a molecular and genealogicalstudy, 360

Subject index

Asymmetry anomaly, Asymmetry and skin pigmentaryanomalies in chromosome mosaicism, 694

Ataxia-ocular motor apraxia syndrome, Ataxia-ocularmotor apraxia syndrome: an investigation ofcellularradiosensitivity of patients and their families, 953

Ataxia telangiectasia, Ataxia-ocular motor apraxia syn-drome: an investigation of cellular radiosensitivityof patients and their families, 953

Atrioventricular septal defect, Exclusion of atrio-ventricular septal defect in a large dominant ped-igree from the Down's syndrome region, 172 abs

Autosomal dominant disorders, Diagnosis of adult po-lycystic kidney disease by genetic markers and ul-trasonographic imaging in a voluntary familyregister, 115

Autosomal recessive disordersAutosomal recessive disorders among Arabs: an over-

view from Kuwait, 224Low segregation ratios in autosomal recessive dis-

orders: letter, 85Microcephaly and congenital nephrotic syndromeowing to diffuse mesangial sclerosis: an autosomalrecessive syndrome, 121

Autosomal structural rearrangement, Mosaicism witha normal cell line and an autosomal structuralrearrangement, 108

Azerbaijan, Thalassaemia in Azerbaijan, 209

Bart-Pumphrey syndrome, Familial leuconychia,knuckle pads, hearing loss, and palmoplantar hy-perkeratosis: an additional family with Bart-Pum-phrey syndrome, 68

Barth's syndrome, Prenatal diagnosis of X linked car-diomyopathy with neutropenia (Barth's syndrome)using DXS 15 (DX13), 169 abs

Bayesian approach, Forensic medicine, PCR, and Baye-sian approach: letter, 896

Beals syndrome, Congenital contractural arachno-dactyly (Beals syndrome): syndrome of the month,640

Becker muscular dystrophyAn inherited dystrophin deletion without muscle

weakness: letter, 505Deletions in the 5' region of dystrophin and resulting

phenotypes, 843Beckwith-Wiedemann syndromeBeckwith-Wiedemann syndrome: syndrome of the

month, 560Mosaic uniparental disomy in Beckwith-Wiedemann

syndrome, 749Best's disease, Molecular evidence for non-penetrance

in Best's disease, 388Bipolar affective disorder, Anticipation in Swedish fam-

ilies with bipolar affective disorder, 686Birth defects, Counselling for birth defects: the differing

perspectives of obstetricians, geneticists, and gen-etic counsellors, 164 abs

Bladder exstrophy, Four cases of bladder exstrophy intwo families, 490

Blaschko's lines, Epidermal mosaicism and Blaschko'slines: letter, 260

Blepharophimosis, Blepharophimosis sequence and dia-phragmatic hernia associated with interstitial de-letion of chromosome 3 (46,XY,del(3)(q21q23)),647

Bone marrow, Bone marrow proliferation as reflectedin ALL cytogenetics: relevance for prognosis andtreatment, 164 abs

Book reviewsBeighton P, editor. McKusick's heritable disorders of

connective tissue, 5th edition, 263Bridge PJ. The calculation of genetic risks: worked

examples in DNA diagnostics, 900Connor JM, Ferguson-Smith MA. Essential medical

genetics, 4th edition, 263Cooper DN, Krawczak M. Human gene mutation,262

Davies KE, Tilghman SM, editors. Genome maps andneurological disorders, 350

Dronamraju KR. If I am to be remembered. The life

and work of Julian Huxley with selected cor-respondence, 426

Dumont-Damien E, Duyme M. Genetics and al-coholism, 981

Edwards RG, editor. Preconception and pre-implantation diagnosis of human genetic disease,426

Emery AEH. Duchenne muscular dystrophy, 2ndedition, 506

Emery AEH, editor. Diagnostic criteria for neuro-muscular disorders, 981

Friedmann T, editor. Molecular genetic medicine,volume 3, 821

Harris H, Hirschhorn K, editors. Advances in humangenetics, volume 21, 262

Heslop-Harrison JS, Flavell RB, editors. The chro-mosome, 350

Huson SM, Hughes RAC, editors. The neuro-fibromatoses: a pathogenetic and clinical review,584

Joyner AL, editor. Gene targeting: a practical ap-proach, 821

Khoury MJ, Beaty TH, Cohen BH. Fundamentalsof genetic epidemiology, 900

King RA, RotterJI, Motulsky AG, editors. The geneticbasis of common diseases, 822

Leslie RDG, editor. Causes of diabetes: genetic andenvironmental factors, 584

Levine AJ, Schmidek HH, editors. Molecular geneticsof nervous system tumours, 821

Lewin B. Genes V, 900Menko FH. Genetics of colorectal cancer for clinical

practice, 506Milunsky A. Heredity and your family's health, 263Nuffield Council on Bioethics: Genetic screening eth-

ical issues, 661Papolos DF, Lachman HM, editors. Genetic studies

in affective disorder: overview of basic methods,current directions and critical research issues, 899

Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL,Kunkel LM, editors. The molecular and geneticbasis of neurological disease, 87

Rothwell NV. Understanding genetics: a molecularapproach, 902

Royce PM, Steinmann B, editors. Connective tissueand its heritable disorders, 263

Schinzel A. Human cytogenetics database, 901Stevenson RE, Hall JG, Goodman RM, editors.Human malformations and related anomalies, vol-umes I and II, 899

Tuddenham EGD, Cooper DN. The molecular ge-netics of haemostasis and its inherited disorders,661

Wachtel SS, editor. Molecular genetics of sex de-termination, 901

Wagner RP, Maguire MP, Stallings RL, editors. Chro-mosomes: a synthesis, 900

White BA, editor. PCR protocols-current methodsand applications, 87

Brachydactyly, Spastic paraplegia, dysarthria, bra-chydactyly, and cone shaped epiphyses: con-firmation of the Fitzsimmons syndrome, 251

Breast cancerGenetic epidemiology of early onset breast cancer,944

Neoplastic diseases in families of breast cancerpatients, 618

Pedigree analysis of newly diagnosed breast cancer:implications for screening, 168 abs

Butyrylcholinesterase, A new detection method for theK variant of butyrylcholinesterase based on PCRprimer introduced restriction analysis (PCR-PIRA), 576

CAG repeatsInstability of CAG repeats in Huntington's disease,377

Study of the Huntington's disease gene CAG repeatsin schizophrenic patients shows overlap of the nor-mal and HD affected ranges but absence of cor-relation with schizophrenia, 690

993

Subject index

CAG trinucleotide repeat, Expanded CAG trinucleotiderepeat of Huntington's disease gene in a patientwith schizophrenia and normal striatal histology:letter, 658

Cancer, familial, Neoplastic diseases in families ofbreastcancer patients, 618

Cancer families, The use of loss of constitutional het-erozygosity data to ascertain the location of pre-disposing genes in cancer families, 448

Cancer family syndrome, Muir-Torre syndrome: a vari-ant of the cancer family syndrome, 627

CAPP Study, The CAPP Study: a new European con-certed action to permit placebo controlled trials incarriers of familial adenomatous polyposis, 171abs

Cardiomyopathy, Prenatal diagnosis of X linked car-diomyopathy with neutropenia (Barth's syndrome)using DXS15 (DX13), 169 abs

Carrier screening, Evaluation of laboratory methods forcystic fibrosis carrier screening: reliability, sens-itivity, specificity, and costs, 545

"CATCH 22", "CATCH 22" sans cardiac anomaly,thymic hypoplasia, cleft palate, and hypocalcaemia:cAtch 22. A common result of 22qll deficiency?letter, 741

Caudate nucleus, Progressive hemifacial atrophy withagenesis of the head of the caudate nucleus, 969

Cephalometric analysis, Cephalometric analysis ofRapp-Hodgkin syndrome, 758

Ceroid lipofuscinoses, Stargardt's disease is not allelicto the genes for neuronal ceroid lipofuscinoses,222

Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth disease in northern Sweden:

pedigree analysis and the presence of the du-plication in chromosome 17pll.2, 435

X linked Charcot-Marie-Tooth disease (CMTX1): astudy of 15 families with 12 highly informativepolymorphisms, 193

Charcot-Marie-Tooth disease type 1, Non-radioactivedetection of l7pll.2 duplication in CMT1A: astudy of 78 patients, 880

Charcot-Marie-Tooth disease type 1 B, Linkage andmutation analysis in an extended family withCharcot-Marie-Tooth disease type 1B, 811

Chemiluminescent detection, Chemiluminescent de-tection of blotted PCR products (CB-PCR) of twoCAG dynamic mutations (Huntington's diseaseand spinocerebellar ataxia type 1), 654

ChildrenThe genetic testing of children: editorial, 743The genetic testing of children, 785

Chile, Genetic epidemiology of single gene defects inChile, 702

ChimaerismChimaerism shown by cytogenetics and DNA poly-morphism analysis, 816

Male/female chimaerism determined by cytogeneticanalysis and DNA polymorphisms, 174 abs

Cholestasis, Liver histology in the arthrogryposis mul-tiplex congenita, renal dysfunction, and cholestasis(ARC) syndrome, 62: letter, 820

Cholinesterase gene, A PCR based method to determinethe Kalow allele of the cholinesterase gene: the Elkallele frequency and its significance in the normalpopulation, 248

Choroid inherited disease, Recent advances in the genemap of inherited eye disorders: primary hereditarydiseases of the retina, choroid, and vitreous: reviewarticle, 903

Chromosome abnormalities18q- and 18q+ mosaicism in a mentally retardedboy (46,XY,del(18)(q21)/46,XY,iso psu dic(18)(q23),168 abs

A comparison of the clinical and cytogenetic findingsin nine patients with a ring (X) cell line and 16 45,X patients, 528

A gene for pachyonychia congenita is closely linkedto the keratin gene cluster on 17ql2-q21, 675

A male with a de novo translocation involving loss of15ql 1q13 material and Prader-Willi syndrome,478

A newborn with ring chromosome 10, aganglionicmegacolon, and renal hypoplasia, 804

Adenomatous polyposis coli and a cytogenetic de-letion of chromosome 5 resulting from a maternalintrachromosomal insertion, 312

Allele loss on chromosome 16p in hamartomata andtumours from patients with tuberous sclerosis,164 abs

An extra band within the human 9qh+ region thatbehaves like the surrounding constitutive het-erochromatin, 632

An interstitial deletion of chromosome 7(q35), 738Another patient with an interstitial deletion of chro-mosome 9: case report and a review of six caseswith del(9)(q22q32), 156

Apparent SMA I unlinked to 5q, 242Assessment of Yqh translocations, 978Association of 1078 del T cystic fibrosis mutation

with severe disease, 159Asymmetry and skin pigmentary anomalies in chro-mosome mosaicism, 694

Balanced reciprocal whole arm translocation t(3;9):analysis by fluorescence in situ hybridisation, 74

Blepharophimosis sequence and diaphragmatic her-nia associated with interstitial deletion of chro-mosome 3 (46,XY,del(3)(q21q23)), 647

Case of direct duplication of part of 2p: ?related topaternal pericentric inversion of chromosome 2,169 abs

"CATCH 22" sans cardiac anomaly, thymic hy-poplasia, cleft palate, and hypocalcaemia: cAtch22. A common result of 22qll deficiency? letter,741

Charcot-Marie-Tooth disease in northern Sweden:pedigree analysis and the presence of the du-plication in chromosome 17pl 1.2, 435

Close linkage of a gene for X linked deafness to threemicrosatellite repeats at Xq21 in radiologically nor-mal and abnormal families, 916

"Compensatory" uniparental disomy of chromosome21 in two cases, 534

Crouzon syndrome is not linked to craniosynostosisloci at 7p and 5qter, 219

De novo 14q32 microdeletion on an inherited t(14;21) Robertsonian translocation resulting in mul-tiple congenital abnormalities in an apparently bal-anced translocation carrier, 169 abs

De novo deletion (2) (pl1.2pl.3): clinical, cyto-genetic, and immunological data, 72

Del(18p) syndrome with a single central maxillaryincisor: letter, 86

Deletion mapping of the DXS986, DXS995, andDXS1002 loci defines their order within Xq21,344

Detection of de novo mutations and analysis of theirorigin in families with X linked hypohidrotic ec-todermal dysplasia, 287

Diaphragmatic herniae and translocations involving8q22 in two patients, 735

Duplication of 16q22-+qter confirmed by fluor-escence in situ hybridisation and molecular analysis,884

Elucidation of structural abnormalities of the X chro-mosome using fluorescence in situ hybridisationwith a Y chromosome painting probe, 206

Familial half cryptic translocation t(9;17), 712Familial pericentric inversion of chromosome 1

(p34q23) and male infertility with stage specificspermatogenic arrest, 573

Familial pericentric inversion inv(8)(p23qll), 201Fine mapping of the facioscapulohumeral muscular

dystrophy gene region on 4q35, 165 absFragile site at Xq27-28 located distal to FRAXE andfound in a normal male, 173 abs

Genetic heterogeneity in hereditary haemorrhagic te-langiectasia, 925

Genetic heterogeneity in hereditary haemorrhagic te-langiectasis: possible correlation with clinical phen-otype, 927

Genetic heterogeneity in X linked hydrocephalus: afamily showing linkage to markers in Xq27.3, 167abs

994

Subject index

Hirschsprung's disease associated with a deletion ofchromosome 10 (qll.2q21.2): a further link withthe neurocristopathies?, 325

Hydrocephalus in an infant with trisomy, 22, 141Identification of interstitial 22qll deletions in cono-

truncal anomaly face syndrome, 167 absIdentification of a key recombinant which assigns the

incomplete congenital stationary night blindnessgene proximal to MAOB, 580

Instability of lymphocyte chromosomes in a girl withRothmund-Thomson syndrome, 570

Intrachromosomal triplication of 15ql 1-q13, 798Isolation and characterisation of a panel of cosmidswhich allows unequivocal identification of chro-mosome deletions involving the RB1 gene usingfluorescence in situ hybridisation, 334

Laminin A variant gene (LAMA3) is present onchromosome 6q21, 164 abs

Linkage of hereditary haemorrhagic telangiectasia tochromosome 9q34 and evidence for locus het-erogeneity, 933

Linkage of a non-specific X linked mental retardationgene to Xq26.1, 172 abs

Male/female chimaerism determined by cytogeneticanalysis and DNA polymorphisms, 174 abs

Maternal serum screening for Down's syndrome andother fetal chromosomal abnormalities, 166 abs

Maternal uniparental disomy of chromosome 13 in aphenotypically normal child, 644

Molecular analysis of human trisomies 13 and 18,175 abs

Molecular characterisation of chromosome 4p de-letions resulting in Wolf-Hirschhorn syndrome,103

Mosaic uniparental disomy in Beckwith-Wiedemannsyndrome, 749

Mouse homologues of human hereditary disease: re-view article, 1

Multiple origins of X chromosome tetrasomy: letter,424

Non-radioactive detection of 17pll.2 duplication inCMT1A: a study of 78 patients, 880

Parental origin of the X chromosome in a patientwith a Robertsonian translocation and Turner'ssyndrome, 255

Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;qI5), 413

Partial trisomy for 2q in a patient with dirdup(2)(q33.Iq35), 652

Partial trisomy 3q causing mild Cornelia de Langephenotype, 150

Paternal pericentric inversion of chromosome 4 as acause of recurrent pregnancy loss, 153

Pseudodicentric chromosome 18 diagnosed by chro-mosome painting and primed in situ labelling(PRINS), 99

Pulmonary atresia associated with maternal 22q1 1.2deletion: possible parent of origin effect in theconotruncal anomaly face syndrome, 830

Refinement of the chromosomal position of the Xlinked juvenile retinoschisis gene, 972

Screening for Y mosaicism in patients with Turner'ssyndrome, 163 abs

Systemic search for uniparental disomy, 163 absTestis determining gene(s) on the X chromosome

short arm: chromosomal localisation and possiblerole in testis determination: letter, 349

The morbid anatomy of the human genome: chro-mosomal location of mutations causing disease:review article, 265

Trisomy 12 mosaicism in a 7 year old girl withdysmorphic features and normal mental de-velopment, 253

Trisomy 8 syndrome owing to isodicentric 8p chro-mosomes: regional assignment of a presumptivegene involved in corpus callosum development,238

Trisomy X in a female member of a family with Xlinked severe combined immunodeficiency: im-plications for carrier diagnosis, 717

Uniparental disomy in man, 162 absValue of chromosome painting in determining the

chromosomal outcome ofoffspring ofa 12; 16 trans-location carrier, 234

X;Y translocation in a girl with short stature andsome features of Turner's syndrome: cytogeneticand molecular studies, 649

X inactivation patterns in female monozygotic twinsand their families, 754

X linked Charcot-Marie-Tooth disease (CMTX1): astudy of 15 families with 12 highly informativepolymorphisms, 193

Chromosome paintingElucidation of structural abnormalities of the X chro-mosome using fluorescence in situ hybridisationwith a Y chromosome painting probe, 206

Value of chromosome painting in determining thechromosomal outcome ofoffspring ofa 12; 16 trans-location carrier, 234

Chromosomes, supernumerary marker, Inv dup(1 5) su-pernumerary marker chromosomes: review article,585

Chylomicronaemia, Apolipoprotein CII-Padova (Tyr37-+stop) as a cause of chylomicronaemia in anItalian kindred from Siculiana, 622

Cleft hand/foot, Cleft hand/foot: clinical and de-velopmental aspects: syndrome of the month, 726

Cleft lip, Interpreting the evidence for an associationbetween the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate:letter, 425

Cleft lip/palate, Syndactyly, ectodermal dysplasia, andcleft lip/palate: syndrome of the month, 957

Cleft palateAnophthalmia with cleft palate and micrognathia: anew syndrome?, 960

Facial clefts in the west of Scotland in the period1980-1984: epidemiology and genetic diagnoses,126

COL1A2 gene, The clinical features of Ehlers-Danlossyndrome type VIIB resulting from a base sub-stitution at the splice acceptor site of intron 5 ofthe COL1A2 gene, 306

Collagen gene type VII (COL7A1), Genetic linkage tothe type VII collagen gene (COL7A1) in 26 familieswith generalised recessive dystrophic epidermolysisbullosa and anchoring fibril abnormalities, 745

Collagen type I at2 gene point mutation, Determinationof a new collagen type I at2 gene point mutationwhich causes a Gly640 Cys substitution in osteo-genesis imperfecta and prenatal diagnosis by DNAhybridisation, 965

Colonic adenomas, Deletions of the entire APC geneare associated with sessile colonic adenomas: letter,426

Compensatory uniparental disomy, "Compensatory"uniparental disomy ofchromosome 21 in two cases,534

Complementation studies, Complementation studies inNiemann-Pick disease type C indicate the existenceof a second group, 317

Concerted Action Polyposis Prevention Study, TheCAPP Study: a new European concerted action topermit placebo controlled trials in carriers of fa-milial adenomatous polyposis, 171 abs

Cone shaped epiphyses, Spastic paraplegia, dysarthria,brachydactyly, and cone shaped epiphyses: con-firmation of the Fitzsimmons syndrome, 251

Congenital contractural arachnodactyly, Congenitalcontractural arachnodactyly (Beals syndrome): syn-drome of the month, 640

Congenital heart defects, Genetic study of congenitalheart defects in Northern Ireland (1974-1978),858

Congenital heart disease, Hereditary pancreatic hy-poplasia, diabetes mellitus, and congenital heartdisease: a new syndrome?, 331

Congenital malformations, A gene map of congenitalmalformations: review article, 507

Conotruncal anomaly face syndrome, Pulmonary atresiaassociated with maternal 22ql 1.2 deletion: possibleparent of origin effect in the conotruncal anomalyface syndrome, 830

Consanguinity, Ascertainment of consanguinity in the

995

Subject index

antenatal clinic, 162 absContruncal anomaly face syndrome, Identification of

interstitial 22qll deletions in contruncal anomalyface syndrome, 167 abs

Cornelia de Lange syndrome, Partial trisomy 3q causingmild Cornelia de Lange phenotype, 150

Corpus callosum, Trisomy 8 syndrome owing to iso-dicentric 8p chromosomes: regional assignment ofa presumptive gene involved in corpus callosumdevelopment, 238

Correction, 88Cosmid contigs, FISH detection of trisomy 21 in in-

terphase by the simultaneous use of two differentlylabelled cosmid contigs, 679

Cosmids, Isolation and characterisation of a panel ofcosmids which allows unequivocal identification ofchromosome deletions involving the RB 1 geneusing fluorescence in situ hybridisation, 334

Costello syndromeCostello syndrome: natural history and differential

diagnosis of cutis laxa, 486Cutis laxa: a feature of Costello syndrome: letter, 85

CounsellingClient satisfaction as outcome measure for audit of a

clinical genetic service, 170 absCounselling for birth defects: the differing per-

spectives of obstetricians, geneticists, and geneticcounsellors, 164 abs

Counselling following diagnosis of a fetal abnormality,864

The provision of counselling for people with hae-moglobinopathy trait in South Glamorgan, Wales,170 abs

Cowden syndrome, Cowden syndrome and Lhermitte-Duclos disease in a family, 458

Cranial neural tube defects, Female predisposition tocranial neural tube defects is not because of adifference between the sexes in the rate of em-bryonic growth or development during neurulation,383

Craniosynostosis, Crouzon syndrome is not linked tocraniosynostosis loci at 7p and 5qter, 219

CTG amplification, Intelligence quotient profile in myo-tonic dystrophy, intergenerational deficit, and cor-relation with CTG amplification, 300

CTG repeat number, High CTG repeat number innodular thyroid tissue from a myotonic dystrophypatient, 891

CTG trinucleotide repeatAbsence of myotonic dystrophy in southern African

Negroids is associated with a significantly lowernumber of CTG trinucleotide repeats, 37

French myotonic dystrophy families show expansionof a CTG repeat in complete linkage disequilibriumwith an intragenic 1 kb insertion, 33

Cutis laxaCostello syndrome: natural history and differential

diagnosis of cutis laxa, 486Cutis laxa: a feature of Costello syndrome: letter, 85

Cystic fibrosisA cystic fibrosis patient homozygous for the new

frameshift mutation 936delTA: description andclinical data, 369

An investigation of sample taking technique for theARMS cystic fibrosis test, 173 abs

Association of 1078 del T cystic fibrosis mutationwith severe disease, 159

Automated analysis of multiplex microsatellites,937

Evaluation of laboratory methods for cystic fibrosiscarrier screening: reliability, sensitivity, specificity,and costs, 545

Mutation analysis in 600 French cystic fibrosispatients, 541

Severe pulmonary and digestive disease in a cysticfibrosis child homozygous for G542X: letter, 84

The impact of population based screening for carriersof cystic fibrosis, 364

Cystic fibrosis mutations, A cluster of cystic fibrosismutations in exon 17b of the CFTR gene: a sitefor rare mutations, 731

Deafness, Close linkage of a gene for X linked deafnessto three microsatellite repeats at Xq21 in ra-diologically normal and abnormal families, 916

Deafness, X linked, Deletion mapping of the DXS986,DXS995, and DXS1002 loci defines their orderwithin Xq2l, 344

Deletion18q- and 18q+ mosaicism in a mentally retardedboy (46,XY,del(18)(q21)/46,XY,iso psu dic(18)(q23), 168 abs

An interstitial deletion of chromosome 7(q35), 738Another patient with an interstitial deletion of chro-mosome 9: case report and a review of six caseswith del(9)(q22q32), 156

Association of 1078 del T cystic fibrosis mutationwith severe disease, 159

Blepharophimosis sequence and diaphragmatic her-nia associated with interstitial deletion of chro-mosome 3 (46,XY,del(3)(q21q23)), 647

De novo deletion (2) (pl 1.2pl3): clinical, cy-togenetic, and immunological data, 72

Del(18p) syndrome with a single central maxillaryincisor: letter, 86

Deletion mapping of the DXS986, DXS995, andDXS1002 loci defines their order within Xq21,344

Deletions in the 5' region of dystrophin and resultingphenotypes, 843

On the origin of deletions and point mutations inDuchenne muscular dystrophy: most deletions arisein oogenesis and most point mutations result fromevents in spermatogenesis, 183

Pulmonary atresia associated with maternal 22qll.2deletion: possible parent of origin effect in theconotruncal anomaly face syndrome, 830

Denys-Drash syndrome, The Denys-Drash syndrome:syndrome of the month, 471

Dermal eccrine cylindromatosis, Dermal eccrine cy-lindromatosis: syndrome of the month, 321

Developmental retardationA syndrome of hypotonia, psychomotor retardation,

seizures, delayed and dysharmonic skeletal mat-uration, and congenital fibre type disproportion,405

Natural history and postmortem anatomy of a patientwith tetra-amelia, ectodermal dysplasia, peculiarface, and developmental retardation (MIM273390): letter, 980

Diabetes mellitus, Hereditary pancreatic hypoplasia,diabetes mellitus, and congenital heart disease: anew syndrome?, 331

Diaphragmatic herniae, Diaphragmatic herniae andtranslocations involving 8q22 in two patients, 735

Dibenzepin, Drug induced VATER association: is di-benzepin a possible cause: letter, 423

DIDMOAD, Mitochondrial mutation commonly as-sociated with Leber's hereditary optic neuropathyobserved in a patient with Wolfram syndrome(DIDMOAD), 328

DiGeorge sequence, Velocardiofacial syndrome and Di-George sequence: letter, 423

Dilated cardiomyopathy, Absence of linkage betweenidiopathic dilated cardiomyopathy and candidategenes involved in the immune function in a largeIndian pedigree, 766

Dinucleotide CA repeat markers, Presymptomatic diag-nosis in families with adenomatous polyposis usinghighly polymorphic dinucleotide CA repeat mark-ers flanking the APC gene, 442

Disease, The morbid anatomy of the human genome:chromosomal location of mutations causing dis-ease: review article, 265

Disomy, Maternal uniparental disomy of chromosome13 in a phenotypically normal child, 644

DNAAmplification mismatch analysis as a method of

screening for mutations in genetic disorders, 162abs

Diagnosis of adult polycystic kidney disease by geneticmarkers and ultrasonographic imaging in a vol-untary family register, 115

996

Subject index

Identification by molecular diagnosis ofmosaic Turn-er's syndrome in an obligate carrier female forfragile X syndrome, 76

DNA analysis, First trimester prenatal diagnosis ofMenkes disease by DNA analysis, 615

DNA polymorphism analysis, Chimaerism shown bycytogenetics and DNA polymorphism analysis,816

Dopamine D3 receptor locus, Homozygosity at thedopamine D3 receptor locus is not associated withschizophrenia: letter, 260

Dopamine D4 receptor polymorphism, No associationbetween dopamine D4 receptor polymorphism andmanic depressive illness: letter, 897

Down-Turner syndrome, Down-Turner syndrome: casereport and review, 807

Down's syndromeChanges in the maternal serum concentrations ofPAPP-A and SP-1 in Down's syndrome pregnanciesbetween the first and second trimesters, 170 abs

Exclusion of atrioventricular septal defect in a largedominant pedigree from the Down's syndrome re-gion, 172 abs

FISH detection of trisomy 21 in interphase by thesimultaneous use of two differently labelled cosmidcontigs, 679

Impact of screening using maternal serum AFP andhCG on the birth incidence of Down's syndromein the west of Scotland, 166 abs


Trisomy 18 and trisomy 21 mosaicism in a Down'ssyndrome patient, 418

Duchenne muscular dystrophyAn inherited dystrophin deletion without muscle

weakness: letter, 505Automated analysis of multiplex microsatellites,937

Deletions in the 5' region of dystrophin and resultingphenotypes, 843

Detection of point mutations in the dystrophin geneusing SSCP analysis, 174 abs

On the origin of deletions and point mutations inDuchenne muscular dystrophy: most deletions arisein oogenesis and most point mutations result fromevents in spermatogenesis, 183

Use ofa translation based method to screen rapidly forpoint mutations in Duchenne muscular dystrophypatients, 164 abs

DuplicationDuplication of 16q22-qter confirmed by fluor-

escence in situ hybridisation and molecular analysis,884

Non-radioactive detection of 17pll .2 duplication inCMT1A: a study of 78 patients, 880

DXS markersDeletion mapping of the DXS986, DXS995, andDXS1002 loci defines their order within Xq21,344

X linked myotubular myopathy (MTM1) maps be-tween DXS304 and DXS305, closely linked to theDXS455 VNTR and a new, highly informativemicrosatellite marker (DXS1684), 922

Dysarthria, Spastic paraplegia, dysarthria, bra-chydactyly, and cone shaped epiphyses: con-firmation of the Fitzsimmons syndrome, 251

DystrophinAn inherited dystrophin deletion without muscle

weakness: letter, 505Automated analysis of multiplex microsatellites,

937Deletions in the 5' region of dystrophin and resulting

phenotypes, 843Detection of point mutations in the dystrophin gene

using SSCP analysis, 174 abs

Ectodermal dysplasiaA new dominantly inherited ectodermal dysplasia

presenting with natal teeth, 171 absCephalometric analysis of Rapp-Hodgkin syndrome,758

Detection of de novo mutations and analysis of theirorigin in families with X linked hypohidrotic ec-todermal dysplasia, 287

Natural history and postmortem anatomy of a patientwith tetra-amelia, ectodermal dysplasia, peculiarface, and developmental retardation (MIM273390): letter, 980

Syndactyly, ectodermal dysplasia, and cleft lip/palate:syndrome of the month, 957

X inactivation studies in Anderson-Fabry disease andX linked ectodermal dysplasia, 169 abs

Ectrodactyly, Cleft hand/foot: clinical and de-velopmental aspects: syndrome of the month, 726

Ecuador, Facial morphometry of Ecuadorian patientswith growth hormone receptor deficiency/Laronsyndrome, 635

Ehlers-Danlos syndrome type VIIB, The clinical fea-tures of Ehlers-Danlos syndrome type VIIB re-sulting from a base substitution at the spliceacceptor site of intron 5 of the COL1A2 gene,306

Epidermal mosaicism, Epidermal mosaicism andBlaschko's lines: letter, 260

Epidermolysis bullosa, Genetic linkage to the type VIIcollagen gene (COL7A1) in 26 families with gen-eralised recessive dystrophic epidermolysis bullosaand anchoring fibril abnormalities, 745

Epilepsy, Northern epilepsy syndrome: an inheritedchildhood onset epilepsy with associated mentaldeterioration, 177

Ethnic groups, Culture, kinship and genes: conferencereport, 893

Eye disorders, Recent advances in the gene map ofinherited eye disorders: primary hereditary diseasesof the retina, choroid, and vitreous: review article,903

Eyes, Genetic heterogeneity in Rieger eye malformation,340

FACC gene, Genetic mapping of the FACC gene andlinkage analysis in Fanconi anaemia families, 868

Facial clefts, Facial clefts in the west of Scotland in theperiod 1980-1984, 126

Facial morphometry, Facial morphometry of Ecua-dorian patients with growth hormone receptor de-ficiency/Laron syndrome, 635

Facial stigmata, Two brothers with characteristic facialappearance, severe psychomotor retardation,hypospadias, contractures, and other symptoms: anew recessive syndrome?, 65

Facioscapulohumeral muscular dystrophyFine mapping of the facioscapulohumeral muscular

dystrophy gene region on 4q35, 165 absNew mutation cases offacioscapulohumeral muscular

dystrophy, 165 absFactor VIII gene, Three novel mutations in the factor

VIII gene, 174 absFamilial amyloid polyneuropathyA study of 159 Portuguese patients with familial

amyloidotic polyneuropathy (FAP) whose parentswere both unaffected, 293

Amyloid polyneuropathy in two German-Americanfamilies: a new transthyretin variant (Val 107),416


Familial dysalbuminaemic hyperthyroxinaemia, A pointmutation in the human serum albumin gene resultsin familial dysalbuminaemic hyperthyroxinaemia,355

Familial hypercholesterolaemia, Characterisation of sixpatients who are double heterozygotes for familialhypercholesterolaemia and familial defective apo-lipoprotein B-100, 172 abs

Familial pericentric inversion, Familial pericentric in-version of chromosome 1 (p34q23) and male in-fertility with stage specific spermatogenic arrest,573

Fanconi anaemia families, Genetic mapping of theFACC gene and linkage analysis in Fanconi an-

997

Subject index

aemia families, 868Fetal abnormality, Counselling following diagnosis of a

fetal abnormality, 864Fetal chromosome abnormalities, Maternal serum

screening for Down's syndrome and other fetalchromosomal abnormalities, 166 abs

FibrillinA new missense mutation of fibrillin in a patient withMarfan syndrome, 338

Analysis of a fibrillin TGF,B-bp motif: putative celladhesion properties, 174 abs

Screening for fibrillin (FBN1) mutations in Marfansyndrome, 162 abs

Fibrodysplasia ossificans progressiva, Fibrodysplasia os-sificans progressiva: letter, 85

Finland, Lethal congenital contracture syndrome: fur-ther delineation and genetic aspects, 521

Fitzsimmons syndrome, Spastic paraplegia, dysarthria,brachydactyly, and cone shaped epiphyses: con-firmation of the Fitzsimmons syndrome, 251

Fluorescence in situ hybridisationDuplication of 16q22-+qter confirmed by fluor-

escence in situ hybridisation and molecular analysis,884

Elucidation of structural abnormalities of the X chro-mosome using fluorescence in situ hybridisationwith a Y chromosome painting probe, 206

FISH detection of trisomy 21 in interphase by thesimultaneous use of two differently labelled cosmidcontigs, 679

FMR-1 triplet repeat allele, Expansion of an FMR-1 triplet repeat allele within the normal range:implications for the mechanism of FRA(X) mut-ation, 163 abs

Forensic medicine, Forensic medicine, PCR, and Baye-sian approach: letter, 896

Fragile XA fragile site at Xq27-28 located distal to FRAXE

and found in a normal male, 173 absClinical and molecular studies in fragile X patients

with a Prader-Willi-like phenotype: letters, 260,820

Complementary cytogenetic and molecular analysisof a referral for fragile X testing, 173 abs

Expansion of an FMR-1 triplet repeat allele withinthe normal range: implications for the mechanismof FRA(X) mutation, 163 abs

Identification by molecular diagnosis of mosaic Turn-er's syndrome in an obligate carrier female forfragile X syndrome, 76

Non-radioactive PCR based screening for fragile Xsyndrome, 173 abs

Prenatal diagnosis of fragile X syndrome: man-agement of the male fetus with a premutation,170 abs

The impact ofgenetic counselling on females in fragileX families, 950

France, French myotonic dystrophy families show ex-pansion of a CTG repeat in complete linkage dis-equilibrium with an intragenic 1 kb insertion, 33

Friedreich's ataxia, Linkage disequilibrium betweenFD1-D9S202 haplotypes and the Friedreich'sataxia locus in a central-southern Italian popu-lation, 133

Fructose intolerance, Null alleles of the aldolase B genein patients with hereditary fructose intolerance,499

Fryns syndrome, Two fetuses with Fryns syndromewithout diaphragmatic defects, 962

alpha-L-Fucosidase, Molecular basis of the commonelectrophoretic polymorphism (Ful/Fu2) in humanalpha-L-fucosidase: letter, 659

G542X mutation, Severe pulmonary and digestive dis-ease in a cystic fibrosis child homozygous forG542X: letter, 84

Gaucher disease, type 1, Molecular characterisation oftype 1 Gaucher disease families and patients, 401

Gene mapA gene map of congenital malformations: review art-

icle, 507

Recent advances in the gene map of inherited eyedisorders: primary hereditary diseases of the retina,choroid, and vitreous: review article, 903

Gene transcription, Parental origin of transcription fromthe human GNAS1 gene, 163 abs, 607

Genetic counselling, The impact of genetic counsellingon females in fragile X families, 950

Genetic differences, Culture, kinship and genes: con-ference report, 893

Genetic dominance, The molecular basis of geneticdominance: review article, 89

Genetic epidemiology, Genetic epidemiology of singlegene defects in Chile, 702

Genetic services, Client satisfaction as outcome measurefor audit of a clinical genetic service, 170 abs

Genetic testingThe genetic testing of children: editorial, 743The genetic testing of children, 785

Genetics, Genetics in art, 420Genital tract function, Genital tract function in men

with Noonan syndrome, 468Genome, The morbid anatomy of the human genome:

chromosomal location of mutations causing dis-ease: review article, 265

GNAS1 gene, Parental origin of transcription from thehuman GNAS1 gene, 163 abs, 607

Growth hormone deficiency, Analysis of human growthhormone gene 5' sequences in isolated growth hor-mone deficiency patients, 81

Growth hormone receptor deficiency, Facial morph-ometry of Ecuadorian patients with growth hor-mone receptor deficiency/Laron syndrome, 635

Gsa gene mutations, Parental origin of Gsot gene mut-ations in Albright's hereditary osteodystrophy,835

Half cryptic translocation t(9;17), Familial half cryptictranslocation t(9;17), 712

Hamartomata, Allele loss on chromosome 16p in ham-artomata and tumours from patients with tuberoussclerosis, 164 abs

Hand malformations, Phenotypic analysis of tri-phalangeal thumb and associated hand mal-formations, 462

Hand/foot defects, Cleft hand/foot: clinical and de-velopmental aspects: syndrome of the month, 726

Haplotype FD1-D9S202, Linkage disequilibrium be-tween FD1-D9S202 haplotypes and the Fried-reich's ataxia locus in a central-southern Italianpopulation, 133

Hearing loss, Familial leuconychia, knuckle pads, hear-ing loss, and palmoplantar hyperkeratosis: an ad-ditional family with Bart-Pumphrey syndrome, 68

Hemifacial atrophy, Progressive hemifacial atrophy withagenesis of the head of the caudate nucleus, 969

Hereditary disease, Mouse homologues of human her-editary disease: review article, 1

Hereditary haemorrhagic telangiectasiaGenetic heterogeneity in hereditary haemorrhagic te-

langiectasia, 925Genetic heterogeneity in hereditary haemorrhagic te-

langiectasis: possible correlation with clinical phen-otype, 927

Linkage of hereditary haemorrhagic telangiectasia tochromosome 9q34 and evidence for locus het-erogeneity, 933

Hernia, Genetic study of indirect inguinal hernia, 187Heterochromatin, An extra band within the human

9qh + region that behaves like the surroundingconstitutive heterochromatin, 632

Hirschsprung's diseaseHirschsprung's disease associated with a deletion ofchromosome 10 (ql1.2q21.2): a further link withthe neurocristopathies?, 325

Long segment and short segment familial Hirsch-sprung's disease: variable clinical expression at theRET locus, 602

Human chorionic gonadotrophin, Impact of screeningusing maternal serum AFP and hCG on the birthincidence of Down's syndrome in the west of Scot-land, 166 abs

998

Subject index

Human growth hormoneAnalysis ofhuman growth hormone gene 5' sequences

in isolated growth hormone deficiency patients,81

Facial morphometry of Ecuadorian patients withgrowth hormone receptor deficiency/Laron syn-drome, 635

Human serum albumin gene, A point mutation in thehuman serum albumin gene results in familial dys-albuminaemic hyperthyroxinaemia, 355

Hunter's syndrome, Neurogenic bladder in Hunter'ssyndrome, 257

Huntington's chorea (disease)Chemiluminescent detection ofblotted PCRproducts(CB-PCR) of two CAG dynamic mutations (Hun-tington's disease and spinocerebellar ataxia type 1),654

Clinical features and population genetics of juvenileHuntington's disease in Northern Ireland, 166abs

Correlation of clinical features of Huntington's dis-ease and the mutation in Grampian region, 173abs

De novo mutation in a 3'HVR allele used as a paternitytest in a family with Huntington's chorea,173 abs

Expanded CAG trinucleotide repeat of Huntington'sdisease gene in a patient with schizophrenia andnormal striatal histology: letter, 658

Guidelines for the molecular genetics predictive testin Huntington's disease, 555

HC (CAG)n amplified repeat analysis in Wessex,174 abs

Huntington's disease in two unrelated Arab kindredsand in an Afghani family resident in Saudi Arabia:letter, 819

Instability of CAG repeats in Huntington's disease,377

Mutation size and age at onset in Huntington's dis-ease, 166 abs


Trinucleotide repeat length and progression of illnessin Huntington's disease, 872

HydrocephalusGenetic heterogeneity in X linked hydrocephalus: a

family showing linkage to markers in Xq27.3, 167abs

Hydrocephalus in an infant with trisomy 22, 141Hyperphenylalaninaemia, Non-phenylketonuria hy-

perphenylalaninaemia mutations in Northern Ire-land, 163 abs

Hypertension, Angiotensin I converting enzyme poly-morphism in different groups and its associationwith hypertension, plasma renin activity, and al-dosterone, 172 abs

Hypospadias, Two brothers with characteristic facialappearance, severe psychomotor retardation,hypospadias, contractures, and other symptoms: anew recessive syndrome?, 65

Hypotonia, A syndrome of hypotonia, psychomotorretardation, seizures, delayed and dysharmonicskeletal maturation, and congenital fibre type dis-proportion, 405

Ilell9-.Met mutation, Homozygosity for a new mut-ation (Ilel 19-Met) in the insulin receptor gene infive sibs with familial insulin resistance, 715

ImprintingImprinting in development and disease, 162 absPossible role of imprinting in the Turner phenotype,840

Incomplete congenital stationary night blindness gene,Indentification of a key recombinant which assignsthe incomplete congenital stationary night blind-ness gene proximal to MAOB, 580

Incontinentia pigmenti, A clinical and genetic study ofincontinentia pigmenti, 175 abs

Indexing, Indexing J7ournal ofMedical Genetics, 428Indirect inguinal hernia, Genetic study of indirect in-

guinal hernia, 187Inherited disorders, Workshop on inherited disorders

and their genes in different European populations,Obernai, Strasbourg, France, 26-30 November1993: conference report, 346

Insulin receptor gene, Homozygosity for a new mutation(Ilel19--Met) in the insulin receptor gene in fivesibs with familial insulin resistance, 715

Intelligence quotient, Intelligence quotient profile inmyotonic dystrophy, intergenerational deficit, andcorrelation with CTG amplification, 300

Intracerebral aneurysms, 3-M syndrome and in-tracerebral aneurysms: letter, 898

Intrachromosomal triplication, Intrachromosomal trip-lication of 15qll-ql3, 798

Inv dup(15) supernumerary marker, Inv dup(15) su-pernumerary marker chromosomes: review article,585

InversionA case of direct duplication of part of 2p: ?related to

paternal pericentric inversion of chromosome 2,169 abs

Familial pericentric inversion of chromosome 1(p34q23) and male infertility with stage specificspermatogenic arrest, 573

Familial pericentric inversion inv(8)(p23q 1), 201Paternal pericentric inversion of chromosome 4 as a

cause of recurrent pregnancy loss, 153Italy

Apolipoprotein CII-Padova (Tyr--stop) as a causeof chylomicronaemia in an Italian kindred fromSiculiana, 622

Linkage disequilibrium between FD1-D9S202 haplo-types and the Friedreich's ataxia locus in a central-southern Italian population, 133

Journal abstracts, 83, 176, 259, 348, 504, 656, 818,895

Jtournal ofMedical Genetics, Indexing Journal ofMedicalGenetics, 428

Juvenile retinoschisis, Refinement of the chromosomalposition of the X linked juvenile retinoschisis gene,972

K variant, A new detection method for the K variantof butyrylcholinesterase based on PCR primer in-troduced restriction analysis (PCR-PIRA), 576

Kalow allele, A PCR based method to determine theKalow allele of the cholinesterase gene: the Elkallele frequency and its significance in the normalpopulation, 248

Kartagener's syndrome, Unusual inheritance ofprimaryciliary dyskinesia (Kartagener's syndrome), 493

Kearns-Sayre syndrome, Juvenile Kearns-Sayre syn-drome initially misdiagnosed as a psychosomaticdisorder, 45

Keratin gene cluster, A gene for pachyonychia congenitais closely linked to the keratin gene cluster on17ql2-q21, 675

Keratosis punctata palmaris et plantaris, Keratosispunctata palmaris et plantaris: an autosomal dom-inantly inherited keratoderma associated with ma-lignancy, 168 abs

Knuckle pads, Familial leuconychia, knuckle pads, hear-ing loss, and palmoplantar hyperkeratosis: an ad-ditional family with Bart-Pumphrey syndrome, 68

Kyphomelic dysplasia, Kyphomelic dysplasia: letter,423

Laminin A variant gene, A laminin A variant gene(LAMA3) is present on chromosome 6q21, 164abs

Laron syndrome, Facial morphometry of Ecuadorianpatients with growth hormone receptor deficiency/Laron syndrome, 635

Laurin-Sandrow syndrome, Laurin-Sandrow syndrome

999

Subject index

(mirror hands and feet and nasal defects): de-scription of a new case, 410

Leber's hereditary optic neuropathyLeber's hereditary optic neuropathy: correlations be-tween mitochondrial genotype and visual outcome,280

Mitochondrial mutation commonly associated withLeber's hereditary optic neuropathy observed in apatient with Wolfram syndrome (DIDMOAD),328

LeprechaunismFirst British molecular prenatal diagnosis for lep-

rechaunism, 170 absHomozygosity for a new mutation (Ile 119 --Met) in

the insulin receptor gene in five sibs with familialinsulin resistance, 715

Lethal congenital contracture syndrome, Lethal con-genital contracture syndrome: further delineationand genetic aspects, 521

Leuconychia, Familial leuconychia, knuckle pads, hear-ing loss, and palmoplantar hyperkeratosis: an ad-ditional family with Bart-Pumphrey syndrome, 68

LeukaemiaAcute myeloid leukaemia in a patient with Seckel

syndrome, 148Bone marrow proliferation as reflected in ALL cy-

togenetics: relevance for prognosis and treatment,164 abs

Lhermitte-Duclos disease, Cowden syndrome andLhermitte-Duclos disease in a family, 458

Li-Fraumeni syndrome, A variant of the Li-Fraumenisyndrome: an analysis oftwo further families, 168abs

Limb/pelvis-hypoplasia/aplasia syndrome, The possibleMiddle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndrome: letter, 897

Linkage disequilibrium, Linkage disequilibrium be-tween FD1-D9S202 haplotypes and the Fried-reich's ataxia locus in a central-southern Italianpopulation, 133

Liver, Liver histology in the arthrogryposis multiplexcongenita, renal dysfunction, and cholestasis(ARC) syndrome, 62: letter, 820

Loss of constitutional heterozygosity data, The use ofloss of constitutional heterozygosity data to as-certain the location of predisposing genes in cancerfamilies, 448

Lymphocyte chromosomes, Instability of lymphocytechromosomes in a girl with Rothmund-Thomsonsyndrome, 570

3-M syndrome, 3-M syndrome and intracerebral an-eurysms: letter, 898

Male infertility, Familial pericentric inversion of chro-mosome 1 (p34q23) and male infertility with stagespecific spermatogenic arrest, 573

Malignant hyperthermia, Genetic heterogeneity in ma-lignant hyperthermia, 164 abs

Manic depressive illness, No association between do-pamine D4 receptor polymorphism and manic de-pressive illness: letter, 897

Marfan syndromeA new missense mutation of fibrillin in a patient withMarfan syndrome, 338

Ascertainment and severity of Marfan syndrome in aScottish population, 51

Screening for fibrillin (FBN1) mutations in Marfansyndrome, 162 abs

Maternal serumChanges in the maternal serum concentrations ofPAPP-A and SP-1 in Down's syndrome pregnanciesbetween the first and second trimesters, 170 abs


Meckel syndrome, Meckel syndrome: what are the min-imum diagnostic criteria?, 482

Medical audit, Client satisfaction as outcome measurefor audit of a clinical genetic service, 170 abs

Medical genetics, advances in brief, 83, 176, 259, 348,504, 583, 656, 818, 895

Mediterranean anaemia, Prevention of Mediterraneananaemia in Latium, Italy, today: letter, 86

Medium chain acyl-CoA dehydrogenase, Rapid de-tection of medium chain acyl-CoA dehydrogenasegene mutations by non-radioactive, single strandconformation polymorphism minigels, 551

Meiotic drive, Meiotic drive at the myotonic dystrophylocus: letter, 980

MELAS syndrome, Comparison of the relative levelsof the 3243 (A-+G) mtDNA mutation in het-eroplasmic adult and fetal tissues, 41

Menkes disease, First trimester prenatal diagnosis ofMenkes disease by DNA analysis, 615

Mental retardationA syndrome of hypotonia, psychomotor retardation,

seizures, delayed and dysharmonic skeletal mat-uration, and congenital fibre type disproportion,405

Linkage of a non-specific X linked mental retardationgene to Xq26.1, 172 abs

Two brothers with characteristic facial appearance,severe psychomotor retardation, hypospadias, con-tractures, and other symptoms: a new recessivesyndrome?, 65

X linked mental retardation with non-deletional thal-assaemia (ATR-X): further delineation of the phen-otype, 245

Mesangial sclerosis, Microcephaly and congenital ne-phrotic syndrome owing to diffuse mesangial scler-osis: an autosomal recessive syndrome, 121

Metachromatic leucodystrophyA single origin for the most frequent mutation causing

late infantile metachromatic leucodystrophy, 672The arylsulphatase A gene and molecular genetics of

metachromatic leucodystrophy: review article, 663Micrognathia, Anophthalmia with cleft palate and mi-

crognathia: a new syndrome?, 960Microphthalmos, Autosomal dominant simple mi-

crophthalmos, 721Microsatellite marker, X linked myotubular myopathy

(MTM1) maps between DXS304 and DXS305,closely linked to the DXS455 VNTR and a new,highly informative microsatellite marker(DXS 1684), 922

Microsatellites, Automated analysis of multiplex mi-crosatellites, 937

Minigels, Rapid detection of medium chain acyl-CoAdehydrogenase gene mutations by non-radioactive,single strand conformation polymorphism minigels,551

Mismatch analysis, Amplification mismatch analysis asa method of screening for mutations in geneticdisorders, 162 abs

Mitochondrial encephalopathy, Comparison of the rel-ative levels of the 3243 (A-+G) mtDNA mutationin heteroplasmic adult and fetal tissues, 41

Mitochondrial mutation, Mitochondrial mutation com-monly associated with Leber's hereditary opticneuropathy observed in a patient with Wolframsyndrome (DIDMOAD), 328

Mitochondrial myopathyJuvenile Kearns-Sayre syndrome initially mis-

diagnosed as a psychosomatic disorder, 45Screening service for mitochondrial myopathy: is non-

invasive diagnosis possible in the younger agegroup? 171 abs

Molecular analysis, Duplication of 16q22-+qter con-firmed by fluorescence in situ hybridisation andmolecular analysis, 884

Molecular biology, The molecular basis of genetic dom-inance: review article, 89

Molecular genetics predictive test, Guidelines for themolecular genetics predictive test in Huntington'sdisease, 555

Mosaicism18q- and 18q+ mosaicism in a mentally retardedboy (46,XY,del(18) (q21)/46,XY,iso psudic(18) (q23)),168 abs

Mosaicism with a normal cell line and an autosomalstructural rearrangement, 108

1 000

Subject index


Mouse homologues, Mouse homologues ofhuman her-editary disease: review article, 1

mtDNA mutationComparison of the relative levels of the 3243 (A-+G)mtDNA mutation in heteroplasmic adult and fetaltissues, 41

Juvenile Kearns-Sayre syndrome initially mis-diagnosed as a psychosomatic disorder, 45

Muir-Torre syndrome, Muir-Torre syndrome: a variantof the cancer family syndrome, 627

Multiple endocrine neoplasia type 1, Genetic studies ofthymic carcinoids in multiple endocrine neoplasiatype 1: letter, 261

Mulvihill-Smith syndrome, Mulvihill-Smith syndrome,707

Muscular dystrophy, Linkage analysis of families withsevere childhood autosomal recessive muscular dys-trophy in Morocco indicates genetic homogeneityof the disease in North Africa, 342

Mutation analysis, Mutation analysis in 600 Frenchcystic fibrosis patients, 541

Mutations, Amplification mismatch analysis as amethod of screening for mutations in genetic dis-orders, 162 abs

Myasthenia gravis, Myasthenia gravis: an importantcause of the Pena-Shokeir phenotype, 167 abs

Myotonic dystrophyA case of paternally inherited congenital myotonic

dystrophy, 397Absence of myotonic dystrophy in southern African

Negroids is associated with a significantly lowernumber of CTG trinucleotide repeats, 37

Anticipation resulting in elimination of the myotonicdystrophy gene: a follow up study of one extendedfamily, 595

Diagnostic experience of analysis for myotonic dys-trophy, 171 abs

French myotonic dystrophy families show expansionofa CTG repeat in complete linkage disequilibriumwith an intragenic 1 kb insertion, 33

High CTG repeat number in nodular thyroid tissuefrom a myotonic dystrophy patient, 891

Intelligence quotient profile in myotonic dystrophy,intergenerational deficit, and correlation with CTGamplification, 300

Meiotic drive at the myotonic dystrophy locus: letter,980

Origin ofa regressed myotonic dystrophy allele, 130Paternal transmission of congenital myotonic dys-

trophy, 518Myotubular myopathy, X linked myotubular myopathy

(MTM1) maps between DXS304 and DXS305,closely linked to the DXS455 VNTR and a new,highly informative microsatellite marker(DXS 1684), 922

Nanophthalmos, Autosomal dominant simple mi-crophthalmos, 721

Nemaline myopathy, Exclusion of two candidate locifor autosomal recessive nemaline myopathy, 79

Nephrotic syndrome, Microcephaly and congenital ne-phrotic syndrome owing to diffuse mesangial scler-osis: an autosomal recessive syndrome, 121

Neural tube defects, Female predisposition to cranialneural tube defects is not because of a differencebetween the sexes in the rate of embryonic growthor development during neurulation, 383

Neurocristopathies, Hirschsprung's disease associatedwith a deletion of chromosome 10 (ql 1.2q21.2): afurther link with the neurocristopathies?, 325

NeurofibromatosisIdentification of two novel mutations within the ne-

urofibromatosis-I gene by means of amplificationand mismatch detection, 175 abs

Identifying and characterising pathological mutationsin the NF2 gene, 168 abs

Neurofibromatosis type 1, Neurofibromatosis type 1 inIsrael: survey of young adults, 853

Neurogenic bladder, Neurogenic bladder in Hunter'ssyndrome, 257

Neurulation, Female predisposition to cranial neuraltube defects is not because of a difference betweenthe sexes in the rate of embryonic growth or de-velopment during neurulation, 383

Neutropenia, Prenatal diagnosis of X linked car-diomyopathy with neutropenia (Barth's syndrome)using DXS15 (DX13), 169 abs

Niemann-Pick disease type C, Complementation stud-ies in Niemann-Pick disease type C indicate theexistence of a second group, 317

Night blindness gene, Identification of a key re-combinant which assigns the incomplete congenitalstationary night blindness gene proximal to MAOB,580

Nodular thyroid tissue, High CTG repeat number innodular thyroid tissue from a myotonic dystrophypatient, 891

Non-phenylketonuria hyperphenylalaninaemia, Non-phenylketonuria hyperphenylalaninaemia mut-ations in Northern Ireland, 163 abs

Noonan syndrome, Genital tract function in men withNoonan syndrome, 468

North Africa, Linkage analysis of families with severechildhood autosomal recessive muscular dystrophyin Morocco indicates genetic homogeneity of thedisease in North Africa, 342

Northern epilepsy syndrome, Northern epilepsy syn-drome: an inherited childhood onset epilepsy withassociated mental deterioration, 177

Norway, Aspartylglucosaminuria in northern Norway:a molecular and genealogical study, 360

Notices, 88, 350, 584, 662, 742, 822, 982

Ornithine transcarbamylase gene, A new informativeNco I RFLP in the 3YUTR of the OTC gene, 172abs

Osteocraniostenosis, Osteocraniostenosis, 772Osteogenesis imperfecta, Determination of a new col-

lagen type I 2 gene point mutation which causes aGly640 Cys substitution in osteogenesis imperfectaand prenatal diagnosis by DNA hybridisation,965

Pachyonychia congenita, A gene for pachyonychiacongenita is closely linked to the keratin gene clusteron 17ql2-q21, 675

Pai syndrome, A further patient with Pai syndrome withautosomal dominant inheritance?, 497

Pallister-Hall syndrome, Recurrence of Pallister-Hallsyndrome in two sibs, 145: letters, 740

Palmoplantar hyperkeratosis, Familial leuconychia,knuckle pads, hearing loss, and palmoplantar hy-perkeratosis: an additional family with Bart-Pum-phrey syndrome, 68

Pancreatic hypoplasia, Hereditary pancreatic hy-poplasia, diabetes mellitus, and congenital heartdisease: a new syndrome?, 331

Partial monosomy, Partial monosomy of 7q32 in a caseof de novo rcp(7;15)(q32;ql5), 413

Patent ductus arteriosus, Further family with autosomaldominant patent ductus arteriosus: letter, 659

Paternal inheritanceA case of paternally inherited congenital myotonic

dystrophy, 397Paternal transmission of congenital myotonic dys-

trophy, 518Peculiar face, Natural history and postmortem anatomy

ofa patient with tetra-amelia, ectodermal dysplasia,peculiar face, and developmental retardation (MIM273390): letter, 980

Pena-Shokeir phenotype, Myasthenia gravis: an im-portant cause ofthe Pena-Shokeirphenotype, 167abs

Phenylalanine hydroxylase deficiency, Non-phenyl-ketonuria hyperphenylalaninaemia mutations inNorthern Ireland, 163 abs

Point mutations, On the origin of deletions and point

1001

Subject index

mutations in Duchenne muscular dystrophy: mostdeletions arise in oogenesis and most point mut-ations result from events in spermatogenesis, 183

Polycystic kidney disease, Skeletal malformations andpolycystic kidney disease: letter, 741

Polymerase chain reactionForensic medicine, PCR, and Bayesian approach:

letter, 896Rapid detection of medium chain acyl-CoA de-hydrogenase gene mutations by non-radioactive,single strand conformation polymorphism minigels,551

Polymerase chain reaction primer introduced restrictionanalysis, A new detection method for the K variantof butyrylcholinesterase based on PCR primer in-troduced restriction analysis (PCR-PIRA), 576

Portugal, A study of 159 Portuguese patients with fa-milial amyloidotic polyneuropathy (FAP) whoseparents were both unaffected, 293

Prader-Willi-like phenotype, Clinical and molecularstudies in fragile X patients with a Prader-Willi-like phenotype: letters, 260, 820

Prader-Willi syndromeA male with a de novo translocation involving loss of

15qllql3 material and Prader-Willi syndrome,478

Molecular and cytogenetic analysis of 29 Prader-Willisyndrome patients, 175 abs

Prader-Willi/Angelman syndrome, Automated analysisof multiplex microsatellites, 937

Predisposition to cancer, The use of loss of con-stitutional heterozygosity data to ascertain the loc-ation ofpredisposing genes in cancer families, 448

PregnancyChanges in the maternal serum concentrations ofPAPP-A and SP-1 in Down's syndrome pregnanciesbetween the first and second trimesters, 170 abs

Paternal pericentric inversion of chromosome 4 as acause of recurrent pregnancy loss, 153

Prenatal diagnosisFirst British molecular prenatal diagnosis for lep-

rechaunism, 170 absPrenatal diagnosis of fragile X syndrome: man-agement of the male fetus with a premutation,170 abs

Prenatal diagnosis of X linked cardiomyopathy withneutropenia (Barth's syndrome) using DXS15(DX13), 169 abs

Primary ciliary dyskinesia, Unusual inheritance of prim-ary ciliary dyskinesia (Kartagener's syndrome),493

Primed in situ labelling (PRINS), Pseudodicentric chro-mosome 18 diagnosed by chromosome paintingand primed in situ labelling (PRINS), 99

Pseudoachondroplastic dysplasia, Two sibs who aredouble heterozygotes for achondroplasia andpseudoachondroplastic dysplasia, 565

Pseudohypoparathyroidism, Paternal and maternaltransmission of pseudohypoparathyroidism type Iain a family with Albright hereditary osteodystrophy:no evidence of genomic imprinting: letter, 84

Pulmonary atresia, Pulmonary atresia associated withmaternal 22ql 1.2 deletion: possible parent of origineffect in the conotruncal anomaly face syndrome,830

Pyridoxine-refractory congenital sideroblastic anaemia,Pyridoxine-refractory congenital sideroblastic an-aemia with evidence for autosomal inheritance:exclusion of linkage to ALAS2 at Xpl 1.21 by poly-morphism analysis, 213

Pyruvate dehydrogenase deficiency, Pyruvate de-hydrogenase deficiency: syndrome of the month,875

Rabson-Medenhall syndrome, Homozygosity for a newmutation (Ile 119 -+Met) in the insulin receptorgene in five sibs with familial insulin resistance,715

Rapp-Hodgkin syndrome, Cephalometric analysis ofRapp-Hodgkin syndrome, 758

Read Codes, The Read Codes in clinical genetics, 166abs

Renal dysfunction, Liver histology in the arthrogryposismultiplex congenita, renal dysfunction, and cho-lestasis (ARC) syndrome, 62: letter, 820

Renal hypoplasia, A newborn with ring chromosome10, aganglionic megacolon, and renal hypoplasia,804

Renin activity, Angiotensin I converting enzyme poly-morphism in different groups and its associationwith hypertension, plasma renin activity, and al-dosterone, 172 abs

RET locus, Long segment and short segment familialHirschsprung's disease: variable clinical expressionat the RET locus, 602

Retina, inherited disease, Recent advances in the genemap of inherited eye disorders: primary hereditarydiseases of the retina, choroid, and vitreous: reviewarticle, 903

Retinal pigment epithelium, Genetic heterogeneity ofcongenital hypertrophy of the retinal pigment epi-thelium (CHRPE) in families with familial ad-enomatous polyposis, 55

Retinitis pigmentosa, Retinitis pigmentosa familiesshowing apparent X linked inheritance but unlinkedto the RP2 or RP3 loci, 848

Retinoic acid receptor locus, Interpreting the evidencefor an association between the retinoic acid receptorlocus and non-syndromic cleft lip with or withoutcleft palate: letter, 425

Retinoschisis, Refinement of the chromosomal positionof the X linked juvenile retinoschisis gene, 972

Rieger eye malformation, Genetic heterogeneity in Ri-eger eye malformation, 340

Ring chromosome 10, A newborn with ring chro-mosome 10, aganglionic megacolon, and renal hy-poplasia, 804

Ring (X) cell line, A comparison of the clinical andcytogenetic findings in nine patients with a ring(X) cell line and 16 45,X patients, 528

Robertsonian translocationDe novo 14q32 microdeletion on an inherited t(14;

21) Robertsonian translocation resulting in mul-tiple congenital abnormalities in an apparently bal-anced translocation carrier, 169 abs


Rothmund-Thomson syndrome, Instability of lymph-ocyte chromosomes in a girl with Rothmund-Thomson syndrome, 570

Saethre-Chotzen syndrome, Saethre-Chotzen syn-drome: syndrome of the month, 393

SchizophreniaExpanded CAG trinucleotide repeat of Huntington's

disease gene in a patient with schizophrenia andnormal striatal histology: letter, 658

Homozygosity at the dopamine D3 receptor locus isnot associated with schizophrenia: letter, 260


Sclerosteosis, Sclerosteosis in a Spanish male: first reportin a person of Mediterranean origin, 976

ScotlandAscertainment and severity of Marfan syndrome in a

Scottish population, 51Facial clefts in the west of Scotland in the period

1980-1984: epidemiology and genetic diagnoses,126

Screening, The impact of population based screeningfor carriers of cystic fibrosis, 364

Seckel syndrome, Acute myeloid leukaemia in a patientwith Seckel syndrome, 148

Segregation analysis, Segregation analysis of Alagillesyndrome, 453

Segregation ratios, Low segregation ratios in autosomalrecessive disorders: letter, 85

1002

Subject index

Sessile colonic adenomas, Deletions of the entire APCgene are associated with sessile colonic adenomas:letter, 426

Severe combined immunodeficiencyDeletion mapping of the DXS986, DXS995, andDXS 1002 loci defines their order within Xq2l,344


Sideroblastic anaemia, Pyridoxine-refractory congenitalsideroblastic anaemia with evidence for autosomalinheritance: exclusion of linkage to ALAS2 atXpI 1.21 by polymorphism analysis, 213

Single gene defects, Genetic epidemiology ofsingle genedefects in Chile, 702

Single strand conformation polymorphism minigels,Rapid detection of medium chain acyl-CoA de-hydrogenase gene mutations by non-radioactive,single strand conformation polymorphism minigels,551

Skeletal analysis, Diagnostic distinction between anen-cephaly and amnion rupture sequence based onskeletal analysis, 823

Skeletal malformations, Skeletal malformations and po-lycystic kidney disease: letter, 741

Skeletogenital syndrome, The newly recognised ske-letogenital syndrome: letter, 505

Skin pigmentary anomaly, Asymmetry and skin pig-mentary anomalies in chromosome mosaicism,694

Sotos syndrome, Sotos syndrome: a study of the diag-nostic criteria and natural history, 20

Spastic paraplegia, Spastic paraplegia, dysarthria, bra-chydactyly, and cone shaped epiphyses: con-firmation of the Fitzsimmons syndrome, 251

Spermatogenic arrest, Familial pericentric inversion ofchromosome 1 (p34q23) and male infertility withstage specific spermatogenic arrest, 573

Spinal muscular atrophyApparent SMA I unlinked to 5q, 242Prenatal diagnosis of spinal muscular atrophy, 167

absSpinocerebellar ataxia type 1, Chemiluminescent de-

tection of blotted PCR products (CB-PCR) of twoCAG dynamic mutations (Huntington's diseaseand spinocerebellar ataxia type 1), 654

Spondyloepimetaphyseal dysplasiaNew X linked spondyloepimetaphyseal dysplasia: a

report on eight affected males in the same family,371

Spondyloepimetaphyseal dysplasia with joint laxity(SEMDJL): syndrome of the month, 136

Stargardt's disease, Stargardt's disease is not allelic tothe genes for neuronal ceroid lipofuscinoses, 222

Superoxide dismutase, Identification of the superoxidedismutase (SOD 1) Ilel l3Thr mutation in threeunrelated amyotrophic lateral sclerosis patients,175 abs

SwedenAnticipation in Swedish families with bipolar affective

disorder, 686Charcot-Marie-Tooth disease in northern Sweden:

pedigree analysis and the presence of the du-plication in chromosome 17pl 1.2, 435


Syndactyly, Syndactyly, ectodermal dysplasia, and cleftlip/palate: syndrome of the month, 957

Syndrome of the month, Syndrome of the month: an-notation, 744

Teeth, A new dominantly inherited ectodermal dysplasiapresenting with natal teeth, 171 abs

Testis determining gene(s), Testis determining gene(s)on the X chromosome short arm: chromosomallocalisation and possible role in testis de-termination: letter, 349

Tetra-amelia, Natural history and postmortem anatomy

of a patient with tetra-amelia, ectodermal dysplasia,peculiar face, and developmental retardation (MIM273390): letter, 980

Tetrasomy, Multiple origins of X chromosome te-trasomy: letter, 424

ThalassaemiasPrevention of Mediterranean anaemia in Latium,

Italy, today: letter, 86Thalassaemia in Azerbaijan, 209The origin of the 3 thalassaemia mutations in theUnited Arab Emirates, 165 abs

The spectrum of 3 thalassaemia mutations in theUAE national population, 59

X linked mental retardation with non-deletional thal-assaemia (ATR-X): further delineation of the phen-otype, 245

Thrombocytopenia, X linked thrombocytopenia in alarge Danish pedigree, 167 abs

Thymic carcinoids, Genetic studies ofthymic carcinoidsin multiple endocrine neoplasia type 1: letter, 261

Transcription, Parental origin of transcription from thehuman GNAS1 gene, 163 abs, 607

Transforming growth factor beta, Analysis of a fibrillinTGF3-bp motif: putative cell adhesion properties,

174 absTranslocationA male with a de novo translocation involving loss of15q1q13 material and Prader-Willi syndrome,478

Assessment of Yqh translocations, 978Balanced reciprocal whole arm translocation t(3;9):

analysis by fluorescence in situ hybridisation, 74Diaphragmatic herniae and translocations involving8q22 in two patients, 735

Familial half cryptic translocation t(9;17), 712Value of chromosome painting in determining thechromosomal outcome ofoffspring ofa 12;16 trans-location carrier, 234


TransthyretinAmyloid polyneuropathy in two German-American

families: a new transthyretin variant (Val 107),416

Geographical distribution of l-TR met30 carriers innorthern Sweden: discrepancy between carrier fre-quency and prevalence rate, 351

Trinucleotide repeat length, Trinucleotide repeat lengthand progression of illness in Huntington's disease,872

Triphalangeal thumb, Phenotypic analysis of tri-phalangeal thumb and associated hand mal-formations, 462

TrisomyFISH detection of trisomy 21 in interphase by the

simultaneous use oftwo differently labelled cosmidcontigs, 679

Hydrocephalus in an infant with trisomy 22, 141Molecular analysis of human trisomies 13 and 18,

175 absPartial trisomy for 2q in a patient with dir

dup(2)(q33.lq35), 652Partial trisomy 3q causing mild Cornelia de Lange

phenotype, 150Trisomy 12 mosaicism in a 7 year old girl with

dysmorphic features and normal mental de-velopment, 253

Trisomy 18 and trisomy 21 mosaicism in a Down'ssyndrome patient, 418

Trisomy 8 syndrome owing to isodicentric 8p chro-mosomes: regional assignment of a presumptivegene involved in corpus callosum development,238


Tuberous sclerosisAllele loss on chromosome 16p in hamartomata andtumours from patients with tuberous sclerosis,164 abs

1003

Subject index

Phenotypic variation of tuberous sclerosis in a singleextended kindred, 761

Turner phenotype, Possible role of imprinting in theTurner phenotype, 840

Turner's syndromeA comparison of the clinical and cytogenetic findings

in nine patients with a ring (X) cell line and 16 45,X patients, 528

Balanced reciprocal whole arm translocation t(3;9):analysis by fluorescence in situ hybridisation, 74

Identification by molecular diagnosis of mosaic Tur-ner's syndrome in an obligate carrier female forfragile X syndrome, 76




TwinsX inactivation patterns in female monozygotic twinsand their families, 754

X inactivation studies in female monozygotic twins,169 abs

Ultrasonography, Diagnosis of adult polycystic kidneydisease by genetic markers and ultrasonographicimaging in a voluntary family register, 115

Uniparental disomyA systemic search for uniparental disomy, 163 abs"Compensatory" uniparental disomy ofchromosome

21 in two cases, 534Mosaic uniparental disomy in Beckwith-Wiedemannsyndrome, 749

Uniparental disomy in man, 162 absUnited Arab Emirates

Origin of the ,B thalassaemia mutations in the UnitedArab Emirates, 165 abs

Spectrum of [ thalassaemia mutations in the UAE

national population, 59Urinary tract abnormalities, Urinary tract abnormalities

in Emilia Romagna (Italy), 171 abs

VATER, Drug induced VATER association: is di-benzepin a possible cause: letter, 423

Velocardiofacial syndrome, Velocardiofacial syndromeand DiGeorge sequence: letter, 423

Ventriculoseptal defect, Pulmonary atresia associatedwith maternal 22q 1.2 deletion: possible parentof origin effect in the conotruncal anomaly facesyndrome, 830

Vitreoretinopathies, Recent advances in the gene mapof inherited eye disorders: primary hereditary dis-eases of the retina, choroid, and vitreous: reviewarticle, 903

VNTR probe, De novo mutation in a 3'HVR allele usedas a paternity test in a family with Huntington'schorea, 173 abs

Wilms' tumour, The French Wilms' tumour study: noclear evidence for cancer prone families, 429

Wolf-Hirschhorn syndrome, Molecular characterisationof chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome, 103

Wolfram syndrome, Mitochondrial mutation commonlyassociated with Leber's hereditary optic neuropathyobserved in a patient with Wolfram syndrome(DIDMOAD), 328

45,X cell line, A comparison of the clinical and cy-togenetic findings in nine patients with a ring (X)cell line and 16 45,X patients, 528

X inactivation, X inactivation studies in female mono-zygotic twins, 169 abs

X linked spondyloepimetaphyseal dysplasia, New Xlinked spondyloepimetaphyseal dysplasia: a reporton eight affected males in the same family, 371

1004

Journal of

. F 1

GENETICSVOLUME 31 1994

Editor: Peter S HarperNorth American Editor: P Michael Conneally (Indianapolis)Reviews Editor: Rodney Harris (Manchester)Cytogenetics Editor: A Schinzel (Zurich)Molecular Genetics Editor: Ann Harris (Oxford)Technical Editor: Clare Henderson

V Baranov (St Petersburg)D Timothy Bishop (Leeds)M H Breuning (Leiden)A Cao (Cagliari)David R Cox (San Francisco)A E Czeizel (Hungary)J P Fryns (Leuven)T Gedde-Dahl Jr (Tromso)Karl-Heinz Greschik (Marburg)Judith G Hall (Vancouver)A E Harding (London)M R Hayden (Vancouver)Patricia A Jacobs (Salisbury)Thaddeus E Kelly (Charlottesville)P McGuffin (Cardiff)

Victor A McKusick (Baltimore)Jean-Louis Mandel (Strasbourg)T Marteau (London)T Mazurczak (Warsaw)Margareta Mikkelsen (Copenhagen)Grant R Sutherland (Adelaide)N Tommerup (Copenhagen)G J B van Ommen (Leiden)Tessa Webb (Birmingham)Andrew 0 M Wilkie (Oxford)I D Young (Nottingham)Y T Zeng (Shanghai)Editor,

British Medical Journal

APPOINTED BY THE BRITISH MEDICAL ASSOCIATION

BRITISH MEDICAL ASSOCIATION * TAVISTOCK SQUARE - LONDON WC1H 9JR

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