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 |