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Supplementary Table 1 Patients with developmental delay as the referral reason for diagnostic cytogenetics: 217 cases with CNVs from 752 referrals____________________________________________________________________________________________________________Case Age Sex CNV(s) CNV size(s) Genes involved† Overlapping Family (years) Start End (bp) [Oligos*] FISH probe(s) HGNC OMIM phenotypes‡ study§
____________________________________________________________________________________________________________Established pathogenic microdeletion/microduplication/aneuploidy syndromes (28 cases)1 2 M dup(X)(p22.33-q28) 47,XXY║ Klinefelter DD DN2 8 M dup(X)(p22.33-q28) 47,XXY║ Klinefelter DD DN3 10 F dup(X)(p22.33-q28) 47,XXX║ Triple X DD DN4 1 M dup(X)(p22.33-q28) 47,XXY║ Klinefelter DD DN5 9 M dup(X)(p22.33-q28) 47,XXY║ Klinefelter DD a,b,c DN6 1 F dup(X)(p22.33-q28) 47,XXX║ Triple X DD DN
73 1 M del(1)(q21.1) 484 kb Cooper et al.2 DDd Fam(M)143,324,038-144,680,159 [44] RP11-293J20
74 2 F dup(1)(q21.1) 1.3 Mb Cooper et al.2 DDg,v Fam(M)144,867,339-146,812,122 [64] BAC RP11-772D10del(15)(q11.2) 433 kb Cooper et al.2 ?19,047,782-20,637,722 [81] Not confirmed
75 2 M del(2)(p16.3) 181 kb Winniowiecka-Kowalnik et al.9 Fam(P)50,882,643-51,079,704 [22] BAC RP11-391D19 NRX1 DD
95 5 M dup(16)(p11.2) 341 kb Shinawi et al12 DD Fam(M)29,756,699-30,098,040 [7] PAC CTD-2215A12del(15)(q15.3) 96.7 kb Zang et al.13 ?41,638,870-41,735,609 [20] BAC RP11-263I19 (See incidental findings)
96 6 F dup(16)(p11.2) 812 kb Shinawi et al.12 DDf ?29,238,828-30,240,053 [11]
97 7 M dup(17)(q12) 1.4 Mb Cooper et al.2 DDcc ?31,635,490-33,708,909 [45]
98 5 F dup(22)(q11.22-q11.23) 1.9 Mb Shimojima et al.14 DDdd ?21,235,038-23,395,546 [62] BAC RP11-594L10
99 - 183 CNVs of unknown clinical significance (84 cases) – See Supplementary Table 6184 - 217 Incidental findings of pathogenic CNVs (32 cases) – See Supplementary Table 7* Number of consecutive oligonucleotides displaced.† Primary gene candidate stated where known, otherwise total number of genes within the lesion(s) is stated, or the syndrome, or the reference. HGNC refers to genes recognized by the Hugo Gene Nomenclature Committee and OMIM refers to genes recognized by Online Mendelian Inheritance in Man. Relevant references are given.‡ DD, developmental delay: with comorbidities acongenital myopathy, bcongenital adrenal hypoplasia, ccerebellar hypoplasia, dhypertelorism, eNF1, fdysmorphic, gclub feet, hcoloboma, ibifid uvula, jsubmucous cleft, kduodenal atresia, lcleft palate, magenesis of corpus callosum, nlong limbs, omicrocephaly, pcaudal appendage, qpolydactyly, rmacrocephaly, smicrognathia, tplagiocephaly, uunusual thumbs, vtracheomalacia, wnephrotic syndrome, xhemihypertrophy, ywaddling gait, zsensorineural hearing loss, aapalmar crease, bbepicanthic folds, ccheterotopic nodules in left lateral ventricle,ddgut malrotation.§Fam, familial; Fam(M), known maternal origin; Fam(P), known paternal origin; FamX, familial on the X chromosome; del, deletion;dup, duplication; DN, de novo; M origin, mutation of maternal origin; IT, insertional translocation; ?, one or both parents not available for testing or has not responded to request for parental testing; S, a CNV that segregates with the disorder in the family; T, association with a translocation; ST-MLPA, subtelomere multiplex ligation-dependent probe amplification.║Aneuploidy, translocation, ring chromosome, large deletion or mosaicism confirmed by light microscopy of metaphase cells.
References1. Furrow A, Theisen A, Velsher L et al. Duplication of the STS region in males is a benign copy-number variant. Am J Med Genet
Part A 2011; 155A: 1972-5.2. Cooper GM, Coe BP, Girirajan S et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011; 9: 838-
46.3. Magri C, Piovani G, Pilotta A, Michele T, Buzi F, Barlati S. De novo deletion of chromosome 2q24.2 region in a mentally
retarded boy with muscular hypotonia. Eur J Med Genet 2011; 54: 361-4.4. Ravnan JB, Tepperberg JH, Papenhausen P et al. Subtelomere FISH analysis of 11688 cases: an evaluation of the frequency and
pattern of subtelomere arrangements in individuals with developmental disabilities. J Med Genet 2006; 43: 478-89.
5. Bamshad M, Le T, Watkins WS et al. The spectrum of mutations in TBX3: Genotype/Phenotype relationship in Ulnar-Mammary syndrome. Am J Hum Genet 1999; 64: 1550-62.
6. Bruno DL, Anderlid BM, Lindstrand A et al. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet 2010; 47: 299-311.
7. Nagamani SC, Erez A, Shen J et al. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet 2010; 18: 278-84.
8. Ou Z, Berg JS, Yonath H et al. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 2008; 10: 267-77.
9. Wisniowiecka-Kowalnik B, Nesteruk M, Peters SU et al. Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet Part B Neuropsychiatr Genet 2010; 153B: 983-93.
10. Mefford HC, Eichler EE. Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev 2009; 19: 196-204.
11. Girirajan S, Rosenfeld JA, Cooper GM et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010; 42: 203-9.
12. Shinawi M, Liu P, Kang S-HL et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2010; 47: 332-41.
13. Zhang Y, Malekpour M, Al-Madani N et al. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet 2007; 44: 233-40.
14. Shimojima K, Imai K, Yamamoto T. A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy. Am J Med Genet Part A 2010; 152A: 2820-6.
Supplementary Table 2 Patients with intellectual disability as the referral reason for diagnostic cytogenetics: 100 cases with CNVs from 314 referrals____________________________________________________________________________________________________________Case Age Sex CNV(s) CNV size(s) Genes involved† Overlapping Family (years) Start End (bp) [Oligos*] FISH probe(s) HGNC OMIM phenotypes‡ study§
____________________________________________________________________________________________________________Established pathogenic microdeletion/microduplication/aneuploidy syndromes (16 cases)218 17 F del(X)(p22.33-q28) 45,X║ Turner ID DN219 10 M dup(X)(p22.33-q28) 47,XXY║ Klinefelter ID DN220 9 M dup(1)(q21.1) 1.3 Mb MIM 612475 IDa Fam(P)
144,867,339-146,812,122 [64] RP11-772D10221 15 M del(2)(p15-p16.1) 2.7 Mb MIM 612513 ID ?
60,687,773-63,450,283 [55] BAC RP11-470L12222 14 M del(4)(p16.3) 332 kb Mild Wolf-Hirschhorn ID DN
265 4 M del(16)(p12.1) 570 kb Girirajan et al.8 IDt ?21,745,023-22,315,403 [10] BAC RP11-101E07dup(X)(p11.23) 61.3 kb FTSJ1 Fam(M)48,202,320-48,263,671 [86] CTD-2215A12
266 7 M dup(16)(p11.2) 659 kb MIM 611913 ID Fam(M)29,581,485-30,240,053 [9] PAC CTD-2215A12dup(6)(q26) 122 kb See Supplementary Table 7 ?162,668,308-162,790,389 [3]del(15)(q15.3) 97 kb See Supplementary Table 7 ?41,638,870-41,735,609 [20]
267 - 183 CNVs of unknown clinical significance (84 cases) – See Supplementary Table 6184 - 217 Incidental findings of pathogenic CNVs (32 cases) – See Supplementary Table 7
* Number of consecutive oligonucleotides displaced.† Primary gene candidate stated where known, otherwise total number of genes within the lesion(s) is stated, or the syndrome, or the reference. HGNC refers to genes recognized by the Hugo Gene Nomenclature Committee and OMIM refers to genes recognized by Online Mendelian Inheritance in Man. Relevant references are given.‡ ID, intellectual disability: with comorbidities aleft convergent squint, bpsychosis, cdysmorphic,dcleft palate, emicrotia, fgrooved nasal tip, gglobal dystonia, hceliac disease, imarfanoid build, jcerebral palsy, kcerebellar hypoplasia, lataxia, mnystagmus, nhypotonia, oobesity, pventricular septal defect, qabnormal thumbs, rskeletal abnormalities, sIgA nephritis, tpatchy lack of myelination§ Fam, familial: Fam(M), known maternal origin; Fam(P), known paternal origin; FamX, familial on the X chromosome; del, deletion, dup, duplication; DN, de novo; M origin, mutation of maternal origin; IT, insertional translocation; ?, one or both parents not available for testing or has not responded to request for parental testing; S, a CNV that segregates with the disorder in the family; T, association with a translocation; ST-MLPA, subtelomere multiplex ligation-dependent probe amplification.║Aneuploidy, translocation, ring chromosome, large deletion or mosaicism confirmed by light microscopy of metaphase cells.
References1. Li F, Shen Y, Kohler U, Sharkey FH et al. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign
copy number variant? Eur J Med Genet 2010; 53: 93-9.2. Le Meur N, Holder-Espinasse M, Jaillard S et al. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region
or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. J Med Genet 2010; 47: 22-9.
3. Shoichet SA, Hoffmann K, Menzel C et al. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet 2003; 73: 1341-54.
4. Kirchhoff M, Bisgaard AM, Stoevea R et al. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am J Med Genet Part A 2009; 149A: 894-905.
5. Tempesta S, Sollima D, Ghezzo S et al. Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases. Eur J Med Genet 2008; 51: 639-45.
6. Thienpont B, Bena F, Breckpot J et al. Duplications of the Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet 2010; 47: 155-61.
7. Cooper GM, Coe BP, Girirajan S et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011; 9: 838-46.
8. Girirajan S, Rosenfeld JA, Cooper GM et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010; 42: 203-9.
Supplementary Table 3 Patients with autism spectrum disorder as the referral reason for diagnostic cytogenetics: 28 cases with CNVs from 222 referrals____________________________________________________________________________________________________________Case Age Sex CNV(s) CNV size(s) Genes involved† Overlapping Family (years) Start End (bp) [Oligos*] FISH probe(s) HGNC OMIM phenotypes‡ study§
144,440,711-147,421,643 [74] 321 2 M del(15)(q11.2) 447 kb Cooper et al.1 ASD ?
20,203,447-20,768,925 [81]322 14 M del(16)(p11.2) 517 kb Weiss et al.2 ASD ?
29,581,485-30,098,040 [8] PAC CTD-2215A12 Shinawi et al.3
323 – 340 CNVs of unknown clinical significance (17 cases) – See Supplementary Table 6341- 345 Incidental findings of pathogenic CNVs (5 cases) – See Supplementary Table 7*Number of consecutive oligonucleotides displaced.†Primary gene candidate stated where known, otherwise total number of genes within the lesion(s) is stated, or the syndrome, or the reference. HGNC refers to genes recognized by the Hugo Gene Nomenclature Committee and OMIM refers to genes recognized by Online Mendelian Inheritance in Man, Relevant references are given.‡ ASD, autism spectrum disorder: with comorbidities aanti-psychotic monitoring, bcongenital hypothyroidism.§ DN, de novo.
References
1. Cooper GM, Coe BP, Girirajan S et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011; 9: 838-46.
2. Weiss LA, Shen Y, Korn JM et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med2008; 358: 667-75.
3. Shinawi M, Liu P, Kang S-HL et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2010; 47: 332-41.
Supplementary Table 4 Patients with autism spectrum disorder and developmental delay as the referral reason for diagnostic cytogenetics: 23 cases with CNVs from 110 case referrals____________________________________________________________________________________________________________Case Age Sex CNV(s) CNV size(s) Genes involved† Overlapping Family (years) Start End (bp) [Oligos*] FISH probe(s) HGNC OMIM phenotypes‡ study§___________________________________________________________________________________________________________Established pathogenic microdeletion/microduplication syndromes (3 cases)346 19 M del(X)(p22.31) 1.6 Mb STS ASD & DDa,b ?
6,423,935-8,057,482 [96] Not confirmed347 5 M dup(7)(q11.23) 1.4 Mb Williams-Beuren ASD & DDc Fam(M)
72,287,913-73,832,310 [71] MLPA P064B duplication syndrome348 2 F del(22)(q13.33) 793 kb 22q13 microdeletion ASD & DD T
354 6 M del(16)(p12.1) 570 kb Girirajan et al.3 ASD & DD ?21,635,897-22,530,130 [10] Not confirmed
355 - 364 CNVs of unknown clinical significance (10 cases) – See Supplementary Table 6365- 368 Incidental findings of pathogenic CNVs (4 cases) – See Supplementary Table 7* Number of consecutive oligonucleotides displaced.† Primary gene candidate stated where known, otherwise total number of genes within the lesion(s) is stated, or the syndrome, or the reference. HGNC refers to genes recognized by the Hugo Gene Nomenclature Committee and OMIM refers to genes recognized by Online Mendelian Inheritance in Man. Relevant references are given.‡ ASD, autism spectrum disorder; DD, developmental delay: with comorbidities amicrocephaly, bX-linked ichthyosis,cmacrocephaly,dcoloboma, edeafness, fundescended testes.§ Fam, familial: Fam(M), known maternal origin; Fam(P), known paternal origin; del, deletion; dup, duplication; ?, one or both parents not available for testing or has not responded to request for parental testing; T, association with a translocation.
References1. Nagamani SC, Erez A, Eng C et al. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with
microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Med Genet 2009; 17: 573-81.2. Cooper GM, Coe BP, Girirajan S et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011; 9: 838-
46.3. Girirajan S, Rosenfeld JA, Cooper GM et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe
developmental delay. Nat Genet 2010; 42: 203-9.
Supplementary Table 5 Patients with autism spectrum disorder and intellectual disability as the referral reason for diagnostic cytogenetics: 21 cases with CNVs from 55 case referrals____________________________________________________________________________________________________________Case Age Sex CNV(s) CNV size(s) Genes involved† Overlapping Family (years) Start End (bp) [Oligos*] FISH probe(s) HGNC OMIM phenotypes‡ study§___________________________________________________________________________________________________________Established pathogenic microdeletion/microduplication/aneuploidy syndromes (3 cases)369 10 M dup(X)(p22.33-q28) 47,XXY║ Klinefelter ASD & IDa DN370 12 M del(7)(q11.23) 1.54 Mb Williams ASD & ID ?
72,287,913-73,831,310 [72] Vysis Williams probe371 2 M dup(17)(p11.2-p13.1) 9.56 Mb║ CMT1A ASD & ID DN
9,956,982-19,513,384 [193] Potocki-Lupski Predicted pathogenic CNVs (2 cases)372 6 M dup(X)(p21.1) 580 kb 1 1 ASD & ID Fam(M)
33,128,600-33,708,771[25] BACs RP11-415K03 and RP11-711F24373 9 F del(5)(q21.1-q22.3) 13.8 Mb 35 25 ASD & ID Fam(M), S
101,024,486-115,061,111 [221] BAC RP11-626D16Established pathogenic disease susceptibility CNVs (2 cases)374 13 F dup(1)(q21.1) 381 kb Cooper et al.1 ASD & ID Fam(M)
144,126,573-144,610,725 [42] BAC RP11-293J20375 11 M del(2)(q11.2) 1.4 Mb Cooper et al.1 ASD & ID Fam(M)
96,017,637-97,630,840 [16] BACs RP11-67L23 and RP11-61O17376 – 385 CNVs of unknown clinical significance (10 cases) – See Supplementary Table 6386 - 389 Incidental findings of pathogenic CNVs (4 cases) – See Supplementary Table 7* Number of consecutive oligonucleotides displaced.† Primary gene candidate stated where known, otherwise total number of genes within the lesion(s) is stated, or the syndrome, or the reference. HGNC refers to genes recognized by the Hugo Gene Nomenclature Committee and OMIM refers to genes recognized by Online Mendelian Inheritance in Man. Relevant references are given.‡ ASD, autism spectrum disorder; ID, intellectual disability: with comorbidities aobesity.
§ Fam, familial: Fam(M), known maternal origin; del, deletion; dup, duplication; DN, de novo; ?, one or both parents not available for testing or has not responded to request for parental testing; S, a CNV that segregates with the disorder in the family.║ Large duplication confirmed by light microscopy of metaphase cells.
References1. Cooper GM, Coe BP, Girirajan S et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011; 9: 838-
46.
Supplementary Table 6 CNVs of unknown clinical significance____________________________________________________________________________________________________________Case Age Sex CNV(s) Oligos CNV Size(s) Genes involved* Overlapping phenotypes (years) displaced HGNC OMIM ____________________________________________________________________________________________________________Developmental delay (with associated co-morbidities) (85 cases)99 1 M dup(X)(p22.33) 152 363 kb 3 5100 14 M dup(X)(p22.31) 20 97 kb 1 1101 6 M del(X)(p21.2) 4 24 kb 1 1 Arnold-Chiari malformation102 5 M del(X)(p11.3) 4 5 kb 1 1103 2 M del(X)(p11.2) 3 6 kb 1 1 Cerebral palsy104 1 M del(X)(q13.1) 13 63.6 kb 1 1105 28 F dup(X)(q13.3) 17 187 kb 3 2 Madelung and digit deformity106 3 M dup(X)(q21.1) 3 22 kb 1 1107 12 F del(X)(q21.31) 33 301 kb 1 1108 3 M dup(X)(q23) 3 144 kb 0 0 Ataxia, hypothermia at night109 2 F del(X)(q27.2) 9 372 kb 4 2110 2 M dup(X)(q28) 30 328 kb 2 2111 5 F dup(X)(q28) 12 734 kb 8 4112 15 F dup(1)(q22) 5 252 kb 5 3113 1 F dup(1)(q43) 9 577 kb 2 2 Fibrosis of extra ocular muscles114 8 M dup(1)(q44) 35 2.3 Mb 30 5115 2 F dup(2)(p25.3) 8 459 kb 2 2116 3 F dup(2)(p24.3) 11 637 kb 0 0117 9 M del(2)(p23.2) 3 119 kb 2 1118 1 M dup(2)(p21) 13 27 kb 1 1119 5 M del(2)(p16.3) 3 18 kb 1 1120 9 F del(2)(q14.3) 9 (de novo) 511 kb 0 0 2-3 syndactyly121 1 M dup(2)(q14.3) 13 739 kb 0 0122 6 F dup(2)(37.3) 36 237 kb 4 3 Polymicrogyria123 4 M del(3)(p26.3) 3 11.8 kb 1 1
124 10 F del(3)(p26.3) 20 135 kb 1 1125 3 M dup(3)(p26.3) 13 921 kb 2 2 Agenesis of corpus callosum126 8 M dup(3)(p26.3) 10 534 kb 1 0127 44 F del(3)(p26.2) 3 159 kb 2 2 de novo inv(3)(p26q27)128 1 F del(3)(p22.1) 8 370 kb 1 0129 65 M del(3)(p14.2) 21 1.3 Mb 1 1130 3 F del(4)(p15.1) 7 308 kb 0 0
dup(8)(p23.2-p23.3) 4 307 kb 1 1131 4 M dup(4)(q13.2-q13.3) 11 758 kb 6 5132 6 F del(4)(q31.21) 10 758 kb 1 1133 6 M del(4)(q34.3) 6 224 kb 0 0134 18 F del(5)(p15.2) 13 877 kb 0 0135 17 M del(5)(p14.2-p14.3) 18 1.28 Mb 2 2 Hearing loss, hypertelorism136 6 F del(5)(q14.3) 11 846 kb 0 0137 4 M del(5)(q14.3) 6 356 kb 0 0138 13 F del(5)(q21.2-q21.3) 44 3.0 Mb 1 1 Hypermobility139 9 F dup(5)(q21.3-q22.1) 13 963 kb 2 1 Renal tubular dysgenesis140 7 F dup(5)(q23.3) 6 305 kb 1 1141 7 M del(6)(p12.3) 18 1.3 Mb 2 0142 7 F dup(6)(q14.3-q15) 19 1.03 Mb 1 1143 2 M del(6)(q16.3) 5 28 kb 1 1144 7 M dup(6)(q22.1) 8 509 kb 2 1145 7 M dup(6)(q24.1) 16 1.1 Mb 0 0146 1 F dup(7)(p21.3) 9 599 kb 1 1 Microcephaly147 3 F dup(7)(p21.3) 19 1.46 Mb 3 1 Macrocephaly148 4 M dup(7)(p14.1) 15 141 kb 1 1
del(15)(q15.3) 23 99 kb 5 4 Incidental finding (see Supp Table 2)149 1 M del(7)(p11.2) 49 939 kb 14 8150 2 M dup(7)(q21.13) 22 1.6 Mb 3 1 Aortic stenosis151 12 M dup(7)(q22.1) 7 393 kb 3 1152 1 F dup(8)(p22) 9 608 kb 1 1
153 8 M del(8)(p22) 19 1.3 Mb 4 3 Dysmorphic154 6 F del(8)(q11.21-q11.22)51 3.46 Mb 7 5 Dysmorphic155 9 M dup(8)(q11.23) 7 503 kb 2 2156 5 M dup(8)(q24.3) 15 1.0 Mb 3 2157 10 F del(10)(q21.1) 3 241 kb 1 1158 8 F dup(10)(q26.3) 39 236 kb 9 5159 2 M del(11)(p14.1) 5 254 kb 3 1160 3 M del(11)(p12) 8 596 kb 0 0 Dysmorphic
del(15)(q15.3) 20 97 kb 2 2 Incidental finding (see Supp Table 2)161 5 M del(11)(q21) 6 357 kb 0 0
hypospadias, metopic suture stenosis383 8 M dup(16)(p13.3) 6 329 kb 10 5384 42 M dup(18)(q22.1) 12 805 kb 2 0385 20 F dup(19)(p12) 11 598 kb 6 1__________________________________________________________________________________________________________* HGNC refers to genes recognized by the Hugo Gene Nomenclature Committee and OMIM refers to genes recognized by Online Mendelian Inheritance in Man.
Supplementary Table 7 CNVs of incidental clinical significance ____________________________________________________________________________________________________________Case Age Sex CNV(s) Oligos CNV Size(s) Genes involved* Incidental clinical findings (years) displaced HGNC OMIM ____________________________________________________________________________________________________________Developmental delay (with associated co-morbidities) (34 cases)184 31 F del(X)(p22.31) 70 1.4 Mb 1 1 X-linked ichthyosis carrier and