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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)