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Table 2 Pathogenic CNVs identified in patients with ASD in day-care hospitals of the Greater Paris region

From: Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

Patient Region Coordinates (GRCh37/hg19) Del/Dup Phenotype (MIM number) Size Inheritance Sex
1 1p21.3 (98134258x2,98186019_99530585x1,99612872x2) Deletion 1.4 Mb NA M
2 1p36.33p36.32 (0852803_2723463)x1 dn Deletion Chromosome 1p36 deletion syndrome (# 607872) 1.9 Mb De novo F
3 2p16.3 (50597116_50837494)x1 Deletion Chromosome 2p16.3 deletion syndrome (NRXN1 gene) (# 614332) 240 kb NA M
4 2p16.3 (508925906x2,50937444_51446873x1,51510902x2)pat Deletion Chromosome 2p16.3 deletion syndrome (NRXN1 gene) (# 614332) 250 kb Inherited from the father M
5 4q31.1 (139993209x2,140046328_140323064x1,14037951x2)dn Deletion 276 kb De novo F
6 5q13.3q14.1 (76116577_78831700)x1 dn Deletion 2.7 Mb De novo M
7 6q22.1q22.31 (117955439x2,117998538_123380719x1,123539625x2)dn Deletion 5.4 Mb De novo F
8 7q31.1 (113824704_114008914)x1 Deletion Speech-language disorder-1 (FOXP2 gene) (# 602081) 184 kb NA M
9 8q12.3 (63847208_65755563)x1 dn Deletion 1.9 Mb De novo M
10 10q11.22q11.23 (48533668x2,49390457_52415071x1,52566354x2)dn Deletion 3 Mb De novo M
11 16p11.2 (28543104_29133735)x1 pat Deletion Chromosome 16p11.2 deletion syndrome (SH2B1 gene) (# 613444) 592 kb Inherited from the father M
12 16p13.3 (3776852x2,3831263_3831322x1,3855608x2) Intragenic deletion in CREBBP Rubinstein-Taybi deletion syndrome (# 610543) NA F
13 17q21.31 (43717703_44210822)x1 Deletion Koolen-De Vries syndrome (# 610443) 500 kb De novo F
14 18q21.33q23 (60610554_77945325)x1 Deletion Chromosome 18q deletion syndrome (# 601808) 17.3 Mb NA M
15 19q12q13.3 Karyotype and FISH analysis (probe YAC 954B2 [provided by Human Polymorphism study Center], location 19q12; locus AFM150xa9) Deletion De novo M
16 20q11.23q12 (37467951_39961785)x1 Deletion 2.5 Mb NA F
17 22q11.2 Karyotype and FISH analysis (probes RP11-316 L10 and RP11-1107 K6, location 22q11.2, locus TBX1) Deletion Velocardiofacial syndrome (# 192430) NA M
18 22q13.3 Karyotype and FISH analysis (cosmid probe c106G1220P, location 22q13.3, locus SHANK3) Deletion Phelan-McDermid syndrome (# 606232) De novo F
19 22q13.33 (51121514x2,51122452_51178264x1,51181762x2)dn Deletion Phelan-McDermid syndrome (# 606232) 55.8–60.2 kb De novo M
20 Xp11.4 (41510822_41912496)x1 dn Deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia (CASK gene) (# 300749) 405 kb De novo F
21 1q21.1q21.2 (145747269x2,146324068_149079826x3,149154996x2)dn Duplication Chromosome 1q21.1 duplication syndrome (# 612475) 2.7 Mb De novo M
22 1q31 Karyotype and FISH analysis (probes RP11-440G22 and RP11-142 L4, location 1q31.2) Duplication NA F
23 1q32.2 (207780569_208295581)x3 Duplication 515 kb NA M
24 4p15.3p16.3
4q34.1q35.2
Recombinant chromosome 4 from a pericentric inversion Duplication
Deletion
14 Mb
15 Mb
De novo
De novo
M
25 5p15.33p14.3 (658561_19955760x3, 20049711x2)dn Duplication 19.3 Mb De novo F
26 8p12p11.21 (31396993x2,31488003_43056153x3,43110494x2)dn Duplication 11.6 Mb De novo M
27 8q24.13q23 Karyotype and FISH analysis (probe RP11-762A3, location 8q23.3, locus TRPS1 and probe RP11-89P19, location 8q24.1, locus EXT1) Duplication De novo M
28 14q31.3qter (88212824_107258824)x3[0.2]dn Duplication Mosaic chromosome 14q duplication 19 Mb De novo M
29 15q11q13 Karyotype and FISH analysis (probe cos368 H, location 15q11.2) Duplication Chromosome 15q11q13 duplication syndrome (# 608636) De novo M
30 16p13.12p12.3 (14780195x2,15048751_16276115x3,16899616x2)mat Duplication 1.2 Mb Inherited from the mother M
31 18p11.32p11.31 (198111_3512486)x3 Duplication 3.3 Mb De novo M
32 22q11.23 (23668074x2,23739437_24988455x3,25119044x2)mat Duplication 1.2 Mb Inherited from the mother M
33 22q13.33 (51112766_51137924)X3 Partial duplication of SHANK3 Exons 1 to 12 NA (deceased father) F
34 Xp11 Karyotype 45,X [16]/46,X,idic(X)(p11) [9] Mosaic isodicentric X chromosome NA F
  1. F female, FISH fluorescence in situ hybridization, M male, NA not available (adopted child, parent deceased or unavailable)