Levels of a-fetoprotein in amniotic fluids of mice (curly-tail) with neural tube defects Brock, D. J. H. and Scrimgeour, J. B. (1972). Early prenatal diag- nosis of anencephaly. Lancet, 2, 1252-1253. Brock, D. J. H. and Sutcliffe, R. G. (1972). Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet, 2, 197-199. Gitlin, D. (1975). Normal biology of alpha-fetoprotein. Annals of the New York Academy of Sciences, 259, 7-16. Gitlin, D. and Boesman, M. (1966). Serum alpha-fetoprotein, albumin, and gamma-G-globulin in the human conceptus. J7ournal of Clinical Investigation, 44, 1826-1838. Gruneberg, H. (1954). Genetical studies on the skeleton of the mouse VIII Curly-tail. Journal of Genetics, 52, 52-67. Mancini, G., Carbonara, A. O., and Heremans, J. F. (1965). Im- munochemical quantitation of antigens by single radial immuno- diffusion. InternationalJ'ournal of Immunochemistry, 2, 235-254. Seller, M. J. (1974). Alpha-fetoprotein and the prenatal diagnosis of neural tube defects. Developmental Medicine and Child Neuro- logy, 16, 369-371. Seller, M. J., Campbell, S., Coltart, T. M., and Singer, J. D. (1973). Early termination of anencephalic pregnancy after detection by raised alpha-fetoprotein levels. Lancet, 2, 73. Wepsic, H. T. and Sell, S. (1974). Alpha-fetoprotein: expression in human disease and in rat experimental models. Progress in Experimental Tumor Research, 19, 297-324. Announcement Dr Heinz Karger Prize 1976 The prize which is awarded every year in memory of Heinz Karger, the well-known Basle publisher, for an outstanding scientific work, has in 1976 been conferred in equal parts on D. J. H. Brock (Scotland) for his paper 'Protein Measurements in the Early Prenatal Diag- nosis of Spina Bifida' and P. R. WyattID. M. Cox (Canada) for their paper 'The Utilization of Electron Microscopy in the Prenatal Diagnosis of Genetic Disease'. The Dr Heinz Karger Memorial Foundation invites the submission of papers on the follow- ing subjects: 1977: An original research paper on 'Molecular Biology of Metabolic Diseases'. 1978: An original research paper on 'Cytological and Histochemical Approach to the Diag- nosis of Tumours'. Conditions Manuscripts shall not exceed 20 typewritten pages, including illustrations, tables, and bibliography. Manuscripts marked 'Competition' must reach the publishers, S. Karger AG, Arnold-Bocklin-Strasse 25, CH-4011 Basle (Switzerland), not later than 28 February 1977 and 1978. The manuscript must be typewritten on one side only, double-spaced, and is to be submitted in quadruplicate, and in accordance with the instructions contained in the 'Rules for the Preparation of Manuscripts'. This leaflet can be obtained free of charge from the publishers if the request is marked 'Competition'. Language: English, German, or French. Publication: The winning papers will be published in English in one of the Karger journals. The award for the prize will be SFr. 7000.00. The Council of the Foundation will judge the papers and confer the prizes. 513
11
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Levels of a-fetoprotein in amniotic fluids of mice (curly-tail) with neural tube defectsBrock, D. J. H. and Scrimgeour, J. B. (1972). Early prenatal diag-
nosis of anencephaly. Lancet, 2, 1252-1253.Brock, D. J. H. and Sutcliffe, R. G. (1972). Alpha-fetoprotein in
the antenatal diagnosis of anencephaly and spina bifida. Lancet, 2,197-199.
Gitlin, D. (1975). Normal biology of alpha-fetoprotein. Annals ofthe New York Academy of Sciences, 259, 7-16.
Gitlin, D. and Boesman, M. (1966). Serum alpha-fetoprotein,albumin, and gamma-G-globulin in the human conceptus. J7ournalof Clinical Investigation, 44, 1826-1838.
Gruneberg, H. (1954). Genetical studies on the skeleton of themouse VIII Curly-tail. Journal of Genetics, 52, 52-67.
Mancini, G., Carbonara, A. O., and Heremans, J. F. (1965). Im-munochemical quantitation of antigens by single radial immuno-diffusion. InternationalJ'ournal of Immunochemistry, 2, 235-254.
Seller, M. J. (1974). Alpha-fetoprotein and the prenatal diagnosisof neural tube defects. Developmental Medicine and Child Neuro-logy, 16, 369-371.
Seller, M. J., Campbell, S., Coltart, T. M., and Singer, J. D. (1973).Early termination of anencephalic pregnancy after detection byraised alpha-fetoprotein levels. Lancet, 2, 73.
Wepsic, H. T. and Sell, S. (1974). Alpha-fetoprotein: expression inhuman disease and in rat experimental models. Progress inExperimental Tumor Research, 19, 297-324.
Announcement
Dr Heinz Karger Prize 1976
The prize which is awarded every year in memory of Heinz Karger, the well-known Baslepublisher, for an outstanding scientific work, has in 1976 been conferred in equal parts onD. J. H. Brock (Scotland) for his paper 'Protein Measurements in the Early Prenatal Diag-nosis of Spina Bifida' and P. R. WyattID. M. Cox (Canada) for their paper 'The Utilizationof Electron Microscopy in the Prenatal Diagnosis of Genetic Disease'.The Dr Heinz Karger Memorial Foundation invites the submission of papers on the follow-
ing subjects:
1977: An original research paper on 'Molecular Biology of Metabolic Diseases'.1978: An original research paper on 'Cytological and Histochemical Approach to the Diag-
nosis of Tumours'.
ConditionsManuscripts shall not exceed 20 typewritten pages, including illustrations, tables, and
bibliography. Manuscripts marked 'Competition' must reach the publishers, S. Karger AG,Arnold-Bocklin-Strasse 25, CH-4011 Basle (Switzerland), not later than 28 February 1977and 1978. The manuscript must be typewritten on one side only, double-spaced, and is to besubmitted in quadruplicate, and in accordance with the instructions contained in the 'Rulesfor the Preparation of Manuscripts'. This leaflet can be obtained free of charge from thepublishers if the request is marked 'Competition'.Language: English, German, or French.Publication: The winning papers will be published in English in one of the Karger journals.The award for the prize will be SFr. 7000.00.The Council of the Foundation will judge the papers and confer the prizes.
513
AUTHOR INDEX TO VOLUME 13
ADELSTEIN, P. and FEDRICK, J.: Pyloric stenosis in theOxford Record Linkage Study Area, 439
ADESSA, G_ M., see KUSHNICK, T. and ADESSA, G. M.ADINOLFI, M., BECK, S., EMBURY, S., POLANI, P. E., and
SELLER, M. J.: Levels of a-fetoprotein inamniotic fluids of mice (curly-tail) withneural tube defects, 5II
ALBERMAN, E. D., see CREASY, M. R. and ALBERMAN,E. D.
ALFARO, S. K., D. SAAVEDRA, O., OCHOA, S., SCAGLIA,H., PEREZ-PALACIOS, G.: Pseudoher-maphroditism due to XY gonadal absencesyndrome: case report, 242
ALLEN, F. H., see SCHMIDT, R. et alAMIN, R. B., see WADIA, R. S. et alANDERSON, J., see PIERIDES, A. M. et alARAD, I., see ROSENMANN, A. et alARCASOY, A., see CAVDAR, A. 0. and ARCASOY, A.ARON, A. M., see BERATIS, N. G. et alARONSON, M. M., see EMANUEL, B. S. et alATASU, M.: Hereditary index finger polydactyly: pheno-
typic, radiological, dermatoglyphic, andgenetic findings in a large family, 469
AYALA, A., see GUZMAN-TOLEDANO, R. et al
BACHMAN, R., see GOLBUS, M. S. et alBAIN, A. D., see BESLEY, G. T. N. and BAIN, A. D.BANNERMAN, R. M., see HAYATA, I. et alBARG, G. A., see NEu, R. L. et al.BARNES, I. C., see PENNOCK, C. A. and BARNES, I. C.BATTEY, D. A., see BIRD, G. W. G. et alBEARD, R. J., see HOWELL, R. T. et alBECK, S., see ADINOLFI, M. et alBECROFT, D. M. 0. and CHAMBERS, D.: Supravalvular
aortic stenosis-infantile hypercalcaemiasyndrome: in vitro hypersensitivity tovitamin D2 and calcium, 223
BEGLEITER, M. L., KULKARNI, P., and HARRIs, D. J.:Confirmation of trisomy 22 by trypsin-giemsa staining; case report, 517
BENSON, P. F., see FENSOM, A. H. et alBERATIS, N. G., KAFFE, S., ARON, A. M., and HIRSCH-
BERGREN, N. K., see MCCONNELL, T. S., et alBERTHIER, C., see CARAKUSHANSKY, G. and BERTHIER, C.BESLEY, G. T. N. and BAIN, A. D.: Krabbe's globoid cell
leucodystrophy, I95BIRD, G. W. G., BATTEY, D. A., GREENWELL, P., MORTI-
MER, C. W., WATKINS, W. M., andWINGHAM, J.: Further observations on theBirmingham chimaera: case report, 70
BIRD, T. D., CARLSON, C. B., and HALL, J. G.: Familialessential ('benign') chorea, 357
BLANK, C. E., see ISSA, M. et al
BLUNT, S., see FENSOM, A. H. et alBOBROW, M., see TUNCBILEK, E. et alBOIS, E., FEINGOLD, J., FRENAY, P., and BRIARD, M.-L.:
Infantile cystinosis in France: genetics,incidence, geographic distribution, 434
BOLTON, F. G., see WEATHERALL, D. J. et alBOOK REVIEWS:
BALAKRISHNAN, C., SANGHVI, L. D., and KIRK,R. L.: Genetic diversity among AustralianAborigines, 1975, 413
BERGSMA, D. editor: Genetic forms of hypogonad-ism (Birth defects: original article series,Vol. XI, No. 4), 1975, 335
BERGSMA, D. editor: New chromosomal and mal-formation syndromes (Birth defects:original article series, Vol. XI, No. 5),1975, 415
BERRY, C. L. editor: Human malformations.British Medical Bulletin, 1976, 32 (1), 4I6
BORGAONKAR, D. S.: Chromosomal variation in man.A catalog of chromosomal variants andanomalies, 1975,4I4
BOYCE, A. J. editor: Chromosome variations inhuman evolution, 1975, 4I3
BRINKHOUS, K. M. and HEMKER, H. C. editors:Handbook of hemophilia, parts I and II,1975, 4I6
BUSSEY, H. J. R.: Familial polyposis coil. Familystudies, histopathology, differential diag-nosis, and results of treatment, 1975, 4I5
FRANeOIS, J.: Ocular manifestations of inbornerrors of carbohydrate and lipid metabol-ism, 1975, 335
HARRIS, H.: Prenatal diagnosis and selectiveabortion, 1974, I67
HARRIS, H.: The principles of human biochemicalgenetics, 2nd ed., 1975, 335
JOHN, B. and LEWIS, K. R.: Chromosome hier-archy. An introduction to the biology ofthe chromosomes, 1975, 414
MCKUSICK, V. A.: Mendelian inheritance in man:catalogs of autosomal dominant, autosomalrecessive and X-linked phenotypes, 4thed., 1975, I66
MASTERS, C. F. and HOLME, R. S.: Haemoglobin,isoenzymes and tissue differentiation,1975, 252
MENDLEWICZ, J. editor: Genetics and psycho-pharmacology (Modem problems of phar-macopsychiatry), Vol. 10), 1975, 335
NORA, J. J. and FRASER, F. C.: Medical genetics:principles and practice, 1974, 252
RAINE, D. editor: Molecular variants in disease(Symposium organized by The RoyalCollege of Pathologists, London, Febru-ary 1974), I66
542 Author indexBOON, A. R. and ROBERTS, D. F.: A family study of.
coarctation of the aorta, 4oBOYD, L., see JENKINS, M. B. and BoYD, L.BRACKENRIDGE, C. J., see CHIU, E. and BRACKENRIDGE,
C. J.BRIARD, M.-L., see Bois, E. et al.BRITISH COLUMBIA UNIVERSITY FACULTY OF MEDICINE
and NATIONAL FOUNDATION-MARCH OFDIMES I976 conference on clinical deline-ation of birth defects, 23-25 June 1976,announcement, i68
BROOKFIELD, D. S. K. and WALKER, S.: A case of ringchromosome G22: case report, 530
BROWN, N., see GARDNER, R. J. M. and BROWN, N.BROWN, S., see FAED, M. et alBROWN, S. P., see FENSOM, A. H. et alBUCKTON, K. E., see SILLS, J. A. et alBULLEN, M. F., see PLAYFER, J. R. et alBURKE, W.: Age of onset in Huntington's disease: lack of
parental age effect, 462BURTON, B. K., HAUSER, L., and NADLER, H. L.: Con-
genital scalp defects with distal limb ano-malies. Report of a family, 466
CALI, A., see VENTRUTO, V. et alCALISTI, L., see CAO, A. et alCANALES, E. S., see LEVINSON, G. et al.CAo, A., CIANCHETTI, C., CALISTI, L., and TANGHERONI,
W.: A family of juvenile proximal spinalmuscular atrophy with dominant inheri-tance, I3I
CARAKUSHANSKY, G. and BERTHIER, C.: The de Langesyndrome in one of twins: case report, 404
CARLSON, C. B., see BIRD, T. D. et alCARTER, C. 0.: Risks of miscarriage after amniocentesis:
annotation, 35IEVANS, K. A., and TILL, K.: Spinal dysraphism:
genetic relation to neural tube malforma-tions, 343
CATANI, L. see VENTRUTO, V. et al.CAVDAR, A. 0. and ARCASOY, A.: Haemoglobin
LeporeBOStOf0 in a Turkish family, 363CENTERWALL, W. R., MILLER, K. S., and REEVES, L. M.:
Familial 'partial 9p' trisomy: six cases andfour carriers in three generations, 57
CHAMBERS, D., see BECROFT, D. M. 0. and CHAMBERS, D.CHARD, R., see STAMATOYANNOPOULOS, G. et alCHEN, A. T. L., see FERNHOFF, P. M. et alCHIU, E. and BRAcKENRIDGE, C. J.: A probable case of
mutation in Huntington's disease: casereport, 75
CHIYO, H-A., KUROKI, Y., MATSUI, I., NIITSU, N., andNAKAGOME, Y.: A case of partial trisomy3q: case report, 525
CIANCHETTI, C., see CAo, A. et alCLARKE, G., see TUNCBILEK, E. et alCLEGG, J. B., see WEATHERALL, D. J. et alCoATES, V., see VIANNA-MORGANTE, A. M. et alCOHEN, M. M.: Diagnostic problems in cerebral gigant-
ism: correspondence, 8oSyndrome designations, 266ROSENMANN, A., DAGAN, J., and LEGUM, C.: Partial
trisomy D: a diagnostic and cytogeneticdilemma: case report, 535
COLLING, A., see PIERIDES, A. M. et alCOLTART, T. M., see FENSON, A. H. et alCREASY, M. R. and ALBERMAN, E. D.: Congenital mal-
formations ofthe central nervous system, 9CROMBIE, A. L., see PIERIDES, A. M. et al
DAGAN, J., see COHEN, M. M. et alDANES, B. S.: The Gardner syndrome: increased tetra-
ploidy in cultured skin fibroblast, 52DANIEL, A. and LAM-Po-TANG, P. R. L. C.: Structure
and inheritance of some heterozygousRobertsonian translocation in man, 38I
DANIELS, G. L., see DE WEERDT, C. J. et alDAR, H. and SCHMIDT, R.: Topographic approach for
analysis of palm crease variants, 310see also SCHMIDT, R. et al
DAVID, T. J. and ILLINGWORTH, C. A.: Diaphragmatichernia in the south-west of England,253
and NIXON, A.: Congenital malformations associatedwith anencephaly and iniencephaly, 263
and OSBORNE, C. M.: Scalp hair patterns in mentalsubnormality, I23
DAVIS, J. PRYSE-, see PRYSE-DAVIS, J.DE LA MAzA, L. and SANCHEZ, 0.: Simultaneous G and
C banding of human chromosomes: shortcommunication, 235
DE MELO E FREITAS, M. J., see SETTINERI, W. M. F. et alDE NEGROTTI, T. C., see PENCHASZADEH, V. B. and DE
NEGROTTI, T. C.DE WEERDT, C. J., DANIELS, G. L., and TIPPETT, P.:
Linkage relations of locus for X-bornetype of Charcot-Marie-Tooth muscularatrophy and that for Xg blood groups:short communication, 399
DENTON, T. E., see NEU, R. L. et alDER KALOUSTIAN, V. M., see SHAmMAs, H. F. et alDETTER, J., see STAMATOYANNOPOULOS, G. et alDIA GIROLAMO, R., see VENTRUTO, V. et alDIETZ, A. A., see GARRY, P. J. et al
RUBINSTEIN, H. M. et alDOHERTY, R., see WEITKAMP, L. R. et alDUMONT, C. R., see FmRNHoFF, P. M. et alDURMUS, Z., see STEVENSON, A. C. et al
EDWARDS, J. H., see GOODCHILD, M. C. et alEMANUEL, B. S., ZACKAI, E. H., ARONSON, M. M.,
MELLMAN, W. J., and MOORHEAD, P. S.:Abnormal chromosome 22 and recurrenceof trisomy-22 syndrome, 5oI
EMBURY, S., see ADINOLFI, M. et alEVANS, D. A. P., see KARIM, A. K. M. B. and EVANS, D.
A. P.PLAYFER, J. R. et al
EVANS, H. J., see SPEED, R. M. et alEVANS, K. A., see CARTER, C. 0. et alEzE, L. C., see PLAYFER, J. R. et al
FAED, M., ROBERTSON, J., BROWN, S., SMAIL, P. J., andMUCKHART, R. D.: Pure partial trisomy forlong arm of chromosome 9: case report,239
FARINA, L., see VENTRUTo, V. et alFEDRICK, J., see ADELSTEIN, P. and FEDRICK, J.FEINGOLD, J., see BoIs, E. et alFENSON, A. H., BENSON, P. F., BLUNT, S., BROWN, S. P.,
and COLTART, T. M.: Amniotic cell4-methylumbelliferyl-a-glucosidase acti-vity for prenatal diagnosis of Pompe'sdisease: short communications, I48
FERNHOFF, P. M., SINGH, D. N., HANSON, J., TRUSLER,S., DUMONT, C. R., and CHEN, A. T. L.:Association of D/D translocations withfetal wastage and aneuploidy, 389
FESTA, B., see VENTRUTO, V. et al
HAWKEY, C. J. and SMITHIES, A.: Prader-Willi syndromewith a 15/15 translocation: case report andreviews of the literature, I52
HAYATA, I., OSHIMURA, M., MARINELLO, M. J., BANNER-MAN, R. M., and SANDBERG, A. A.: Non-disjunction of an unusual X chromosome:case report, 320
HERTZ, M., see GOODMAN, R. M. et alHILL, A. S., see FITZSIMMONS, J. S. et alHIRSCHHORN, K., see BERATIS, N. G. et alHOFFMANN, H. J., see HUNTER, A. G. W. et alHOLT, S. B.: Harold Cummins (1894-1976) Obituary,
540HOLTI, G., see PIERIDES, A. M. et alHORSFIELD, G. I., see ROBINSON, E. A. E. et alHOWELL, R. T., ROBERTS, S. H., and BEARD, R. J.: Di-
centric X isochromosomes in man, 496HOWELL, W. M., see NEu, R. L. et alHUISMAN, T. H. J., GRAVELY, M. E., and Sox, R.: A
note on the inheritance of the hereditarypersistence of fetal haemoglobin and the8-chain variant Hb-A2'; short communica-tion, 62
HUNTER, A. G. W., RUDD, N. L., and HOFFMANN, H. J.:Trigonocephaly and associated minor ano-malies in mother and son: case report, 77
ILLINGWORTH, C. A., see DAVID, T. J. and ILLINGWORTH,C. A.
ISSAK M., POTTER, A. M., and BLANK, C. E.: Multiplecongenital defects associated with trisomyfor long arm of No. 4: case report, 326
JAHODOVA, M., see NIERMEIJER, M. F. et alJAMES, K., see GARRY, P. J. et alJENKINS, D. M., see SCOTT, J. S. and JENKINS, D. M.JENKINS, M. B. and BOYD, L.: Reciprocal translocation,
4q-;21p+, giving rise to Down's syn-drome: case report, 323
JIMENEZ, M., see GuzMAN-TOLEDANO, R. et alLEVINSON, G. et al
JOHNSTON, A. W., see SPEED, R. M. et alJUBERG, R. C. and GERSHANIK, J. J.: Cervical vertebral
fusion (Klippel-Feil) syndrome with con-sanguineous parents: case report, 246
KAFFE, S., see BERATIS, N. G. et alKALMUS, H. and SEEDBURGH, D.: Probable common
origin of a hereditary fundus dystrophy(Sorsby's familial pseudoinflammatorymacular dystrophy) in an English andAustralian family, 271
KALOUSTIAN, V. M. DER, see DER KALOUSTIAN, V. M.KARIM, A. K. M. B. and EVANS, D. A. P.: Polymorphic
acetylation of nitrazepam, 17KARN, R. C., see TYE, J. G. et alKATZNELSON, A., see GOODMAN, R. M. et alKATZNELSON, M. B.-M., see GOODMAN, R. M. et alKELLY, F., see ROBINSON, E. A. E. et alKELLY, T. E. and TAYLOR, H. A.: Leucocyte values of
c-L-iduronidase activity in mucopoly-saccharidase I: short communication, I49
KENYON, V. G., see PATRICK, A. D. et alKHERA, S. A., see WEITKAMP, L. R. et alKIDD, K. K. and SPENCE, M. A.: Genetic analyses of
pyloric stenosis suggesting a specificmaternal effect, 290
KIME, R., see FITZSIMMONS, J. S. et alKLEIJER, W. J., see NIERMEIJER, M. F. et al
FIELD, E. J.: Scrapie: a review of its relation to humandisease and ageing: review article, 479
FILSHIE, G. M., see FITZSIMMONS, J. S. et alFITZSIMMONS, J. S., FILSHIE, G. M., HILL, A. S., and
KIME, R.: Antenatal diagnosis of tlisomy13 with unexpected increase in alpha-fetoprotein: case report, 400
FORD, P. C., see GARRY, P. J. et alFOREMAN, R. E., see MCCONNELL, T. S. et alFREITAS, M. J. DE MELO E, see DE MELO E FREITAS, M. J.FRENAY, P., see BOIS, E. et alFRIED, K. and MUDEL, G.: Absence of distal inter-
phalangeal creases of fingers with flexionlimitation, 127
FRIEDMAN, A., see NAVEH, Y. and FRIEDMAN, A.FURUKAWA, T. and TOYOKURA, Y.: Chronic spinal mus-
cular atrophy of facioscapulohumeraltype, 285
GALJAARD, H., see NIERMEIJER, M. F. et alGARDINER, S. E., see PIERIDES, A. M. et alGARDNER, L. I., see NEu, R. L. et alGARDNER, R. J. M. and BROWN, N.: Lowe's syndrome:
identification of carriers by lens examina-tion, 449
GARRY, P. J., DIETZ, A. A., LUBRANO, T., FORD, P. C.,JAMES, K., and RUBINSTEIN, H. M.: Newallele at cholinesterase locus 1, 38
see RUBINSTEIN, H. M. et alGERSHANIK, J. J., see JUBERG, R. C. and GERSHANIK, J. J.GIBLETT, E., see STAMATOYANNOPOULOS, G. et alGILLIN, M. E. and PRYSE-DAVIS, J.: Pterygium syn-
drome: case report, 249GIROLAMA, R. Di, see Di GIROLAMO, R.GLENN, K. P., see GOODCHILD, M. C. et alGOLBUS, M. S., BACHMAN, R., WILTSE, S., and HALL,
B. D.: Tetraploidy in a liveborn infant:case report, 329
GOODCHILD, M. C., EDWARDS, J. H., GLENN, K. P.,GRINDEY, C., HARRiS, R., MACKINTOSH,P., and WENTZEL, J.: A search for linkagein cystic fibrosis, 4I7
GOODMAN, R. M., KATZNELSON, M. B.-M., HERTZ, M.,and KATZNELSON, A.: Camptodactyly, withmuscular hypoplasia, skeletal dysplasia,and abnormal palmar creases: Tel Hasho-mer camptodactyly syndrome, I36
GOSDEN, C. M., WRIGHT, M. O., PATERSON, W. G., andGRANT, K. A.: Clinical details, cytogeneticstudies, and cellular physiology of a 69,XXX fetus, with comments on the bio-logical effect of triploidy in man, 37I
GRANT, K. A., see GOSDEN, C. M. et alGRAVELY, M. E., see HUISMAN, T. H. J. et alGREENWELL, P., see BIRD, G. W. G. et alGRINDEY, C., see GOODCHILD, M. C. et alGUZMAN-TOLEDANO, R., AYALA, A., ZARATE, A., and
JIMENEZ, M.: Triple X female and Tur-ner's syndrome offspring: case report, 5i6
see also LEVINSON, G. et al
HALL, B. D., see GOLBUS, M. S. et alHALL, J. G., see BIRD, T. D. et alHANSON, J., see FERNHOFF, P. M. et alHARRIS, D. J., see BEGLEITER, M. L. et alHARRIS, R., see GOODCHILD, M. C. et alHASHOLT, L.: Behaviour of cell cultures from human
amniotic fluid, 34HAUSER, L., see BURTON, B. K. et al
Author index 543
KLEPPER, C. TICHELAAR-, see TICHELAR-KLEPPER, C.KuLKARNiu, P., see BEGLEITER, M. L. et alKUROKI, Y., see CHIYo, H-A. et alKUsHNICK, T. and ADESSA, G. M.: Partial trisomy 9 with
resemblance to Cofin-Siris syndrome:case report, 237
LAM-PO-TANG, P. R. L. C., see DANIEL, A. and LAM-Po-TANG, P. R. L. C.
LAZJUK, G. I., LURIE, I. W., and NEDZVED, M. K.:Further studies on the genetic hetero-geneity of cebocephaly, 3I4
LEGUM, C., see COHEN, M. M. et alLEPPARD, B. and THOMSON, H. R.: Gardner's syndrome
and steatocystoma multiplex: case report,407
LEVINSON, G., ZARATE, A., GUZMAN-TOLEDANO, R.,CANALES, E. S., and JIMENEz, M.: An XXfemale with sexual infantilism, absentgonads, and lack of Mullerian ducts: casereport, 68
LUBRANO, T., see GARRY, P. J. et alRUBINSTEIN, H. M. et al
LURIE, I. W., see LAzJUK, G. I. et al
MCCONNELL, T. S., FOREMAN, R. E., and BERGREN, N.K.: Chromosome abnormalities in South-west American Indian patients: corres-pondence, I64
MACDONALD, J. L., ROBERTS, D. F., SHAw, D. A., andSAUNDERS, M: Blood groups and otherpolymorphisms in multiple sclerosis, 30
MCFARLANE, A. and SCOTT, J. S.: Pre-eclampsia/eclampsia in twin pregnancies, 208
MCKERAN, R. 0. and WATTS, R. W. E.: Use ofphytohaemagglutinin stimulated lympho-cytes to study effects of hypoxanthine-guanine phosphoribosyltransferase(HGPRT) deficiency on polynucleotideand protein synthesis in the Lesch-Nyhansyndrome, 9I
MACKINTOSH, P., see GOODCHILD, M. C. et alMANKINEN, C. B. and SEARS, J. W.: Trisomy 13 in a
female over 5 years of age: case report, 157MARINELLO, M. J., see HAYATA, I. et alMARSH, G. W., see WEATHERALL, D. J. et alMATSUI, I., see CHIyo, H-A. et alMAzA, L. DE LA, see DE LA MAZA, L.MELLMAN, W. J., see EMANUEL, B. S. et alMERRITT, A. D., see TYE, J. G. et alMILLER, R. S., see CENTERWALL, W. R. et alMILNER, P. F., see WEATHERALL, D. J. et alMooRHEAD, P. S., see EMANUEL, B. S. et alMORGANTE, A. M. VIANNA-, see VIANNA-MORGANTE,
A. M.MORTIMER, C. W., see BIRD, G. W. G. et alMORTON, N. E.: Genetic markers in atherosclerosis: a
review, 8IMUCKHART, R. D., see FAED, M. et alMUNDEL, G., see FRIED, K. and MUNDEL, G.
NADLER, H. L., see BURTON, B. K. et alNAKAGOME, Y., see CHIYO, H-A. et alNAVEH, Y. and FRIEDMAN, A.: Pfeiffer syndrome: report
ofa family and review ofthe literature, 277NEDZVEC, M. K., see LAZJUK, G. I. et alNEGROTTI, T. C. DE, see DE NEGROTTI, T. C.
NEU, R. L., ORTEGA, C. C., BARG, G. A., PINTO, JR. W.,GARDNER, L. I., HOWELL, W. M., andDENTON, T. E.: Inclusion of satellites in an18/21 translocation chromosome shown byammoniacal-silver staining (sat-banding)in case of partial trisomy 18: case report,520
STOCKMAN, J. A., SPITZER, R. E., and ToMAR, R. H.:46,XY/46,XY,21q- mosaicism in aninfant with neutropenia and properdindeficiency: case report, 332
NIERMEIJER, M. F., SACHS, E. S., JAHODOvA, M.,TICHELAAR-KLEPPER, C., KLEIJER, W. J.,and GALJAARD, H.: Prenatal diagnosis ofgenetic disorders, I82
NIITSU, N., see CHIYO, H-A. et alNISS, R. and PASSARGE, E.: Trisomy 8 restricted to cul-
tured fibroblasts, 229NITOWSKY, H. M., see SCHMIDT, R. et al
SCHOENEMAN, K. and NITOWSKY,H. M.
NIXON, A., see DAVID, T. J. and NIXON, A.NORTH, D., see ROBINSON, E. A. E. et alNOZAKI, M. J., see VIANNA-MORGANTE, A. M. et alNUTE, P. E., see STAMATOYANNOPOULOS, G. et al
OCHOA, S., see ALFARO, S. K. et alORNOY, A., see PERLMAN, M. et alORTEGA, C. C., see NEU, R. L. et al
VIANNA-MORGANTE, A. M. et alOSBORNE, C. M., see DAVID, T. J. and OSBORNE, C. M.OSHIMURA, M., see HAYATA, I. et alOTTO, P. A., see ZATZ, M. et al
PALACIOS, G. PEREZ-, see PEREZ-PALACIOS, G.PASSARGE, E., see NISS, R. and PASSARGE, E.PATERSON, W. G., see GOSDEN, C. M. et alPATRICK, A. D., WILLCOX, P., STEPHENS, R., and
KENYON, V. G.: Prenatal diagnosis ofWolman's disease, 49
PEARCE, W. G. and SANGER, R.: X mapping in man:evidence against direct measurable link-age between ocular albinism and deutancolour blindness: short communication,3I9
PENCHASZADEH, V. B. and DE NEGROTTI, T. C.: Ectro-dactyly-ectodermal dysplasia-clefting(EEC) syndrome: dominant inheritanceand variable expression, 28i
PENHA-SERRANO, C., see ZATZ, M. et alPENNOCK, C. A. and BARNES, I. C.: The mucopoly-
saccharidoses, I69PtREZ-PALACIOS, G., see ALFARO, S. K. et alPERLMAN, M., WILLIAMS, J., and ORNOY, A.: Familial
ureteric bud anomalies: case report, i6iPIERIDES, A. M., HOLTI, G., CROMBIE, A. L., ROBERTS,
D. F., GARDINER, S. E., COLLING, A., andANDERSON, J.: Study on a family withAnderson-Fabry's disease and associatedfamilial spastic paraplegia, 455
PINTO, JR. W., see NEU, R. L. et alPLAYFER, J. R., EzE, L. C., BULLEN, M. F., and EVANS,
D. A. P.: Genetic polymorphism andinterethnic variability of plasma paroxo-nase activity, 337
POLANI, P. E., see ADINOLFI, M. et alPOrrER, A. M., see ISSA, M. et alPRICE EVANS, D. A., see EVANS, D. A.PRYSE-DAVIS, J., see GILLIN, M. E. and PRYSE-DAVIS, J.
544 Author index
Author indexRAEBURN, J. A., see SILLS, J. A. et alRAO, B. S. S. R. and NARAYANAN, H. S.: Consanguinity
and familial mental retardation, 27REEVES, L. M., see CENTERWALL, W. R. et alRICCIARDI, I., see VENTRUTO, V. et alROBERTS, D. F., see BOON, A. R. and ROBERTS, D. F.
MACDONALD, J. L. et alPIERIDES, A. M. et al
ROBERTS, S. H., see HOWELL, R. T. et alROBERTSON, J., see FAED, M. et alROBINSON, E. A. E., NORTH, D., HORSFIELD, G. I., and
KELLY, F.: A case of twin chimerism: casereport, 528
ROMANO, A., see VENTRUTO, V. et alROSENMANN, A., ARAD, I., SIMCHA, A., and SCHAAP, T.:
Familial Ebstein's anomaly: case report,
532see also COHEN, M. M. et al
RUBINSTEIN, H. M., DIETZ, A. A., LUBRANO, T., andGARRY, P. J.: E1J, a quantitative variant atcholinesterase locus 1: immunologicalevidence, 43
see also GARRY, P. J. et alRUDD, N. L., see HUNTER, A. G. W. et al
SAAVEDRA, D., see ALFARO, S. K. et alSACHS, E. S., see NIERMEIJER, M. F. et alSALZANO, F. M., see SETTINERI, W. M. F. et alSANCHEZ, 0., see DE LA MAZA, L. and SANCHEZ, 0.SANDBERG, A. A., see HAYATA, I. et alSANGER, R., see PEARCE, W. G. and SANGER, R.SARDESAI, H. V., see WADIA, R. S. et alSAUNDERS, M., see MACDONALD, J. L. et alSAVAGE, J. R. K.: Classification and relationships of in-
SAY, B., see STEVENSON, A. C. et alSAYRE, J. W., see WEITKAMP, L. R. et alSCHMIDT, R., SOBEL, E. H., NITOWSKY, H. M., DAR, H.,
and ALLEN, F. H.: Monozygotic twinsdiscordant for sex; case report, 64
SCAGLIA, H., see ALFARO, S. K. et alSCHAAP, T., see ROSENMANN, A. et alSCHMIDT, R., see DAR, H. and SCHMIDT, R.SCHOENEMAN, M. and NITOWSKY, H. M.: Renal function
studies in an infant with 4p(-) syndrome:case report, 522
SCHWARTZ, R. H., see WEITKAMP, L. R. et alSCOTT, C. I., see STEVENSON, R. E. and SCOTT, C. I.SCOTT, J. S. and JENKINS, D. M.: Immunogenetic factors
in aetiology of pre-eclampsia/eclampsia(gestosis): review article, 200
see also MCFARLANE, A. and SCOTT, J. S.SEARS, J. W., see MANKINEN, C. B. and SEARS, J. W.SEBASTIO, G., see VENTRUTO, V. et alSEBASTIO, L., see VENTRuro, V. et alSEEDBURGH, D., see KALMUS, H. and SEEDBURGH, D.SELLER, M. J., see ADINOLFI, M. et alSERJEANT, G. R., see WEATHERALL, D. J. et alSERRANO, C. PENHA-, see PENHA-SERRANO, C.SETTINERI, W. M. F., SALZANO, F. M., and DE MELO E
FREITAS, M. J.: X-linked anhidrotic ecto-dermal dysplasia with some unusualfeatures, 2I2
SHAMMAS, H. F., TABBARA, K. F., and DER KALOUSTIAN,V. M.: Atvpical serum cholinesterase in a
family with congenital distichiasis: shortcommunication, 514
SHAW, D. A., see MACDONALD, J. L. et al
545SILLS, J. A., BUCKTON, K. E., and RAEBURN, J. A.: Severe
mental retardation in a boy with partialtrisomy lOq and partial monosomy 2q, 507
SIMCHA, A., see ROSENMANN, A. et alSINGH, D. N., see FERNHOFF, P. M. et alSMAIL, P. J., see FAED, M. et alSMITH, D. W.: Progeria in twins: correspondence, I64SMITHIES, A., see HAWKEY, C. J. and SMITHIES, A.SOBEL, E. H., see SCHMIDT, R. et alSox, R., see HUISMAN, T. H. J. et alSPEED, R. M., JOHNSTON, A. W., and EVANS, H. J.:
Chromosome survey of the total popula-tion of mentally subnormal in North-Eastof Scotland, 295
SPENCE, M. A., see KIDD, K. K. and SPENCE, M. A.SRIDHARA RAMA RAo, B. S., see RAO, B. S. S. R.STAMATOYANNOPOULOS, G., NUTE, P. E., GIBLETT, E.,
DETTER, J., and CHARD, R.: HaemoglobinM Hyde Park occurring as a fresh muta-tion: diagnostic, structural, and geneticconsiderations, 142
STEPHENS, R., see PATRICK, A. D. et alSTEVENSON, A. C., SAY, B., USTAOGLU, S., and DURMUS,
Z.: Aspects of pre-eclamptic toxaemia ofpregnancy, consanguinity, and twinningin Ankara, I
STEVENSON, R. E. and SCOTT, C. I.: Discordance forCornelia de Lange syndrome in twins:case report, 402
STOCKMAN, J. A., see NEU, R. L. et alSPITZER, R. E., see NEU, R. L. et al
TABBARA, K. F., see SHAMMAS, H. F. et alTANGHERONI, W. A., see CAO, A. et alTAYLOR, H. A., see KELLY, T. E. and TAYLOR, H. A.TAYSI, K., see TUNCBILEK, E. et alTHOMPSON, H. R., see LEPPARD, B. and THOMPSON, H. R.TICHELAAR-KLEPPER, C., see NIERMEIJER, M. F. et alTILL, K., see CARTER, C. 0. et alTIPPETT, P., see DE WEERDT, C. J. et alTOKOYURA, Y., see FURURAWA, T. and TOKOYURA, Y.TOLEDANO, R. GuzMAN-, see GUZMAN-TOLEDANO, R.TOMAR, R. H., see NEU, R. L. et alTOwNES, P. L.: Cerebral gigantism: correspondence, 8oTRUSLER, S., see FERNHOFF, P. M. et alTUNCBILEK, E., BOBROW, M., CLARKE, G., and TAYSI,
K.: A giant short arm of no. 21 chromo-some in mother of 21/21 translocationmongol: case report, 41 I
TYE, J. G., KARN, R. C., and MERRITT, A. D.: Dif-ferential expression of salivary (Amy.) andpancreatic (Amy2) human amylase loci inprenatal and postnatal development, 96
USTAOGLU, S., see STEVENSON, A. C. et al
VENTRUTO, V., CALI, A., FARINA, L., FESTA, B., RICCI-ARDI, I., and SEBASTIO, L.: A case ofhypogonadotrophic hypogonadism withanosmia (Kallmann's syndrome) in a male,with familial incidence of a small meta-centric chromosome (40,XY,mat? +): casereport, 71
DI GIROLAMO, R., FESTA, B., ROMANO, A., SEBASTIO,G., and SEBASTIo, L.: Family study ofinherited syndrome with multiple con-genital deformities: symphalangism, car-pal and tarsal fusion, brachydactyly,craniosynostosis, strabismus, hip osteo-chondritis, 394
546 Author indexFESTA, B., SEBASTIO, L., SEBASTIO, G., and CATANI,
L.: Larsen syndrome in two generations ofan Italian family: case report, 538
VIANNA-MORGANTE, A. M., NozAKI, M. J., ORTEGA,C. C., COATES, V., and YAMAMURA, Y.:Partial monosomy and partial trisomy 18in two offspring of carrier of pericentricinversion of chromosome 18, 366
WADGAONKAR, S. U., see WADIA, R. S. et alWADIA, R. S., WADGAONKAR, S. U., AMIN, R. B., and
SARDESAI, H. V.: An unusual family ofbenign 'X' linked muscular dystrophy withcardiac involvement, 352
WALKER, S., see BROOKFIELD, D. S. K., and WALKER, S.WATKINS, W. M., see BIRD, G. W. G. et alWATTS, R. W. E., see MCKERAN, R. 0. and WATTS,
R. W. E.WEATHERALL, D. J., CLEGG, J. B., MILNER, P. F., MARSH,
G. W., BOLTON, F. G., and SERJEANT,G. R.: Linkage relationships between ,-and 8-structural loci and African forms ofPi thalassaemia, 20
WEITKAMP, L. R., SAYRE, J. W., SCHWARTZ, R. H.,DOHERTY, R., and KHERA, S. A.: 'Duartevariant with clinical signs' has alpha1-antitrypsin genotype ZZ, 46
WELCH, S. G.: Haemoglobin E Saskatoon p22glu-lys inthe Shetland Island, 477
WENTZEL, J., see GOODCHILD, M. C. et alWILLCOX, P., see PATRICK, A. D. et alWILLIAMS, J., see PERLMAN, M. et alWILTSE, S., see GOLBUS, M. S. et alWINGHAM, J., see BiRD, G. W. G. et alWRIGHT, M. 0., see GOSDEN, C. M. et al
YAMAMURA, Y., see VIANNA-MORGANTE, A. M. et al
ZACKAI, E. H., see EMANUEL, B. S. et alZARATE, A., see GUZMAN-TOLEDANO, R. et alZARATE, A., see LEvINSON, G. et alZATZ, M., PENHA-SERRANO, C., and OTTO, P. A.:
X-linked recessive type of pure spasticparaplegia in a large pedigree: absence ofdetectable linkage with Xg, 2I7
SUBJECT INDEX TO VOLUME 13
Abortions, spontaneous, and congenital malformations ofCNS, 9
Acetylation, polymorphic, of nitrazepam, I7Ageing and human disease, relation to scrapie of sheep:
review article, 479Albinism, colour, and deutan colour blindness, evidence
against direct measurable linkage: shortcommunication, 3I9
Alkaline phosphatase activity in cultured skin fibroblastsfrom fibrodysplasia ossificans progessiva,307
Allele, E1J, at cholinesterase locus 1, 38; quantitativevariant, immunological evidence, 43
Alpha-feto protein, increased, with antenatal diagnosis oftrisomy 13: case report, 400
levels in amniotic fluids of mice with neural tubedefects, 5II
Amniocentesis, diagnosis of trisomy 13 with increase ofalpha-feto protein: case report, 400
prenatal diagnosis of genetic disorders, I82risks of miscarriage after: annotation, 35I
Amniotic cell 4-methylumbelliferyl-a-glucosidase acti-vity for prenatal diagnosis of Pompe'sdisease: short communication, I48
Amniotic fluid, human, behaviour of cell cultures, 34Amniotic fluid, level of alpha-fetoprotein in mice with
neural tube defects, 5IIAmylase loci, salivary and pancreatic, differential ex-
pression in prenatal and postnatal develop-ment, 96
Anderson-Fabry's disease, and associated familial spas-tic paraplegia, family study, 455
Anencephaly and iniencephaly, congenital malformationsassociated with, 263
Aneuploidy and fetal wastage, association of D/D trans-locations with, four families, 389
Anhidrotic ectodermal dysplasia, X-linked, with someunusual features, 2I2
ANNOTATIONS:Classification and relationships of induced chromo-
somal structural changes, I03Risks of miscarriage after amniocentesis, 351
Antenatal diagnosis, see AmniocentesisAorta, coarctation, family study, 420Atherosclerosis, genetic markers: review article, 8i
Becker's dystrophy, see Muscular dystrophy, benign 'X'linked
Birmingham chimaera, further observations: case report,70
Blood groups and other polymorphisms in multiplesclerosis, 30
Xg, and Charcot-Marie-Tooth muscular atrophy:short communication, 399
Brachydactyly, symphalangism, carpal and tarsal fusion,craniosynostosis, strabismus and hiposteochondritis: inherited syndrome, 394
Camptodactyly syndrome, Tel Hashomer, see TelHashomer camptodactyly syndrome
Carpal and tarsal fusion, symphalangism, brachydactyly,craniosynostosis, strabismus, and hiposteochondritis: inherited syndrome, 394
Cebocephaly, genetic heterogeneity, further studies,314
Cell cultures, from human amniotic fluid, behaviour,34
Central nervous system, congenital malformations, inspontaneous abortions, 9
Cerebral gigantism: correspondence, 8oCervical vertebral fusion (Klippel-Feil) syndrome with
consanguineous parents: case report, 246Charcot-Marie-Tooth muscular atrophy, linkage rela-
tions of locus for X-borne type, and thatfor Xg blood groups: short communica-tion, 399
Chimera, Birmingham, further observations: case report70
Cholinesterase locus i, new allele, E1j, 38; immuno-logical evidence, 43serum, atypical, in family with congenitaldistichiasis: short communication, 514
9-10 April 1976, announcement, 63Globoid cell leucodystrophy, Krabbe's, isoenzyme
studies, 195Gondadal absence with 46,XY chromosome, and pseudo-
hermaphroditism: case report, 242agenesis syndrome, in XX female with sexual infantil-
ism, and lack of Miillerian ducts: casereport, 68
Haemoglobin, E Saskatoon p22glu-Ys in the ShetlandIslands, 477
fetal, and 8-chain variant Hb-A2', inheritance ofhereditary persistence: short communica-tion, 62
LeporeBOstOn in a Turkish family, 363M Hyde Park occurring as a fresh mutation: diagnos-
tic, structural, and genetic considerations,142
Subject index548
Monosomy, partial, and partial trisomy 18 in two off-spring of carrier of pericentric inversion ofchromosome 18, 366
2q, partial, and partial trisomy 10q, in boy with severemental retardation, 507
Mosaicism 46,XY/46,XY,21q-, with neutropenia andproperdin deficiency: case report, 332
Mucopolysaccharidoses: review article, I69Mucopolysaccharidosis I, assay of a-L-iduronidase in
peripheral leucocytes in diagnosis: shortcommunication, I49
Multiple sclerosis, blood groups and other polymorph-isms, 30
Muscular atrophy, Charcot-Marie-Tooth, linkage re-lations of locus for X-borne type, and thatfor Xg blood groups: short communica-tion, 399
proximal spinal, juvenile, family with dominant in-heritance, I3I
spinal, of facioscapulohumeral type, 285Muscular dystrophy, benign 'X' linked, with cardiac in-
volvement, unusual family history, 352
Neural tube defects, alpha-fetoprotein level in amnioticfluid in mice, 5II
genetic relation to spinal dystaphism, 343Neutropenia and properdin deficiency with 46,XY/46,
XY,21q- mosaicism: case report, 332Nitrazepam, polymorphic acetylation, I7
Obituary: Harold Cummins (1894-1976), 540Ocular albinism and deutan colour blindness, evidence
against direct measurable linkage: shortcommunication, 3I9
Oxford Record Linkage Study Area, pyloric stenosis, 439Palm crease variants, topographic approach for analysis,
3IOParaplegia, spastic, see Spastic paraplegiaParoxonase, plasma activity, genetic polymorphism and
interethnic variability, 337Pfeiffer syndrome: report of a family and review of
literature, 277Phytohaemagglutinin stimulated lymphocytes, use to
study effects of HGPRT deficiency onpolynucleotide and protein synthesis inLesch-Nyhan syndrome, 9I
Polydactyly, index finger, hereditary: phenotypic, radio-logical, dermatoglyphic, and genetic find-ings in large family, 469
Polymorphism, genetic, and interethnic variability ofplasma paroxonase activity, 337
Pompe's disease, 4-methylumbelliferol-a-glucosidase forprenatal diagnosis: short communication,I48
Prader-Willi syndrome with 15/15 translocation: casereport, I52
Pre-eclampsia/eclampsia (gestosis), immunogenetic fac-tors in aetiology: review article, 200
in twin pregnancies, 208Prenatal diagnosis of genetic disorders, I82Progeria in twins: correspondence, I64Properdin deficiency and neutropenia with 46,XY/46,
XY,21q - mosaicism: case report, 332Pseudohermaphroditism due to XY gonadal absence
syndrome: case report, 242Pseudoinflammatory macular dystrophy, familial (here-
ditary fundus dystrophy), probable com-mon origin in an English and an Australianfamily, 27I
Hernia, diaphragmatic, south-west England, 253Huntington's disease, age of onset: lack of parental age
effect, 462probable case of mutation: case report, 75
Hypogonadism, hypogonadotrophic, with anosmia (Kall-mann's syndrome) in male, with familialincidence of small metacentric chromo-some (47,XY,mat ? + ): case report, 71
Hypohidrotic ectodermal dysplasia, X-linked, with someunusual features, 2I2
a-L-Iduronidase assay in peripheral leucocytes inmucopolysaccharidosis I: short com-munication, 149
Index finger polydactyly, hereditary: phenotypic, radio-logical, dermatoglyphic, and genetic find-ings in large family, 469
Infantile cystinosis, France, genetics, incidence, geo-graphic distribution, 434
Iniencephaly and anencephaly, congenital malformationsassociated with, 263
International Advisory Committee on Cytogenetic Regi-sters to the Standing Committee onStandardization in Human Cytogenetics,data, announcement, 63
International Conference on Standardization in HumanGenetics, 5th Mexico City, 1976, an-nouncement, 336
Isochromosomes, dicentric X in man, 4 cases of Turner'ssyndrome, 496
Isoenzyme studies in Krabbe's globoid cell leucodys-trophy, I95
Kallmann's syndrome, in male with familial incidence ofsmall metacentric chromosome (47,XY,mat? +): case report, 7 I
Klippel-Feil syndrome (cervical vertebral fusion) withconsanguineous parents: case report, 246
Trisomy, 3q partial, with clinical features: case report,525
4, long arm, associated with multiple congenitaldefects: case report, 326
8 restricted to cultured fibroblasts, 229'partial 9p', six cases and four carriers, three genera-
tions, 579, partial, long arm: case report, 239
with resemblance to Coffin-Siris syndrome: casereport, 237
lOq, partial, and partial monosomy 2q in a boy withsevere mental retardation, 507
13, in female over 5 years of age: case report, I57with increase of alpha-feto protein, antenatal
diagnosis: case report, 400D, partial (14 or 15), a diagnostic and cytognetic
-dilemma: case report, 53518, partial, and partial monosomy in two offspring of
carrier of pericentric inversion of chromo-some 18, 366
18 with translocation 18/21, shown by satellitestaining technique: case report, 520
22, confirmation by trypsin-giemsa staining: casereport, 5I7
syndrome, recurrence, and abnormal chromosome22, 50I
Turner's syndrome, with dicentric X isochromosomes, 4cases, 496
offspring from triple X female: case report, 5 i6Twins, chimerism, shown by cytogenetic studies, red cell
grouping, and white cell :HL-A typing:case report, 528
Cornelia de Lange syndrome in one: case report, 404discordance for: case report, 402monozygotic, discordant for sex: case report, 64pre-eclampsia/eclampsia during pregnancy, 208pre-eclamptic toxaemia of pregnancy, and con-
sanguinity, aspects, Ankara, iprogeria: correspondence, I64
Ureteric bud anomalies, familial: case report, i6IVitamin D2 and calcium, in vitro hypersensitivity, supra-