Open Access
Tableau I
Anomalies cytogénétiques observées chez des patients présentant un TSA dans les hôpitaux de jour de la région ÎIe-de-France. M : homme, F : femme, NA : non disponible, FISH : Hybridation in situ fluorescent, Del/dup : délétion/duplication.
| Patient | Région | Coordonnées (GRCh37/hg19) | Del/Dup | Phénotype (MIM number) | Taille | Transmission | Sexe |
|---|---|---|---|---|---|---|---|
| 1 | 1p21.3 | (98134258x2,98186019_99530585x1,99612872x2) | Délétion | - | 1.4 Mb | NA | M |
| 2 | 1p36.33p36.32 | (0852803_2723463)x1 dn | Délétion | Chromosome 1p36 syndrome de délétion (# 607872) | 1.9 Mb | de novo | F |
| 3 | 2p16.3 | (50597116_50837494)x1 | Délétion | Chromosome 2p16.3 syndrome de délétion (NRXN1) (# 614332) | 240 kb | NA | M |
| 4 | 2p16.3 | (508925906x2,50937444_51446873x1,51510902x2)pat | Délétion | Chromosome 2p16.3 syndrome de délétion (NRXN1) (# 614332) | 250 kb | hérité de la mère | M |
| 5 | 4q31.1 | (139993209x2,140046328_140323064x1,14037951x2)dn | Délétion | - | 276 kb | de novo | F |
| 6 | 5q13.3q14.1 | (76116577_78831700)x1 dn | Délétion | - | 2.7 Mb | de novo | M |
| 7 | 6q22.1q22.31 | (117955439x2,117998538_123380719x1,123539625x2)dn | Délétion | - | 5.4 Mb | de novo | F |
| 8 | 7q31.1 | (113824704_114008914)x1 | Délétion | Speech-language disorder-1 (FOXP2) (# 602081) | 184 kb | NA | M |
| 9 | 8q12.3 | (63847208_65755563)x1 dn | Délétion | - | 1.9 Mb | de novo | M |
| 10 | 10q11.22q11.23 | (48533668x2,49390457_52415071x1,52566354x2)dn | Délétion | - | 3 Mb | de novo | M |
| 11 | 16p11.2 | (28543104_29133735)x1 pat | Délétion | Chromosome 16p11.2 syndrome de délétion (SH2B1 gène) (# 613444) | 592 kb | hérité du père | M |
| 12 | 16p13.3 | (3776852x2,3831263_3831322x1,3855608x2) | Délétion intragénique dans CREBBP | Rubinstein-Taybi deletion syndrome (# 610543) | - | NA | F |
| 13 | 17q21.31 | (43717703_44210822)x1 | Délétion | Koolen-De Vries syndrome (# 610443) | 500 kb | de novo | F |
| 14 | 18q21.33q23 | (60610554_77945325)x1 | Délétion | Chromosome 18q syndrome de délétion (# 601808) | 17.3 Mb | NA | M |
| 15 | 19q12q13.3 | Caryotype et FISH (sonde YAC 954B2 [Human Polymorphism study Center], localisation 19q12 ; locus AFM150xa9) | Délétion | - | - | de novo | M |
| 16 | 20q11.23q12 | (37467951_39961785)x1 | Délétion | - | 2.5 Mb | NA | F |
| 17 | 22q11.2 | Caryotype et FISH (sonde RP11-316L10 et RP11-1107K6, localisation 22q11.2, locus TBX1) | Délétion | Velocardiofacial syndrome (# 192430) | - | NA | M |
| 18 | 22q13.3 | Caryotype et FISH (sonde cosmide c106G1220P, localisation 22q13.3, locus SHANK3) | Délétion | Phelan-McDermid syndrome (# 606232) | - | de novo | F |
| 19 | 22q13.33 | (51121514x2,51122452_51178264x1,51181762x2)dn | Délétion | Phelan-McDermid syndrome (# 606232) | 55.8-60.2 kb | de novo | M |
| 20 | Xp11.4 | (41510822_41912496)x1 dn | Délétion | Mental retardation et microcephaly with pontine et cerebellar hypoplasia (CASK gene) (# 300749) | 405 kb | de novo | F |
| 21 | 1q21.1q21.2 | (145747269x2,146324068_149079826x3,149154996x2)dn | Duplication | Chromosome 1q21.1 syndrome de duplication (# 612475) | 2.7 Mb | de novo | M |
| 22 | 1q31 | Caryotype et FISH (sonde RP11-440G22 et RP11-142L4, localisation 1q31.2) | Duplication | - | - | NA | F |
| 23 | 1q32.2 | (207780569_208295581)x3 | Duplication | - | 515 kb | NA | M |
| 24 | 4p15.3p16.3 | chromosome 4 recombinant inversion péricentrique | Duplication | - | 14 Mb | de novo | M |
| 4q34.1q35.2 | Délétion | 15 Mb | de novo | ||||
| 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 | Caryotype et FISH (sonde RP11-762A3, localisation 8q23.3, locus TRPS1 et sonde RP11-89P19, localisation 8q24.1, locus EXT1) | Duplication | - | - | de novo | M |
| 28 | 14q31.3qter | (88212824_107258824)x3[0.2]dn | Duplication | Mosaïque chromosome 14q duplication | 19 Mb | de novo | M |
| 29 | 15q11q13 | Caryotype et FISH (sonde cos368 H, localisation 15q11.2) | Duplication | Chromosome 15q11q13 duplication syndrome (# 608636) | - | de novo | M |
| 30 | 16p13.12p12.3 | (14780195x2,15048751_16276115x3,16899616x2)mat | Duplication | - | 1.2 Mb | Hérité de la mère | 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 | Hérité de la mère | M |
| 33 | 22q13.33 | (51112766_51137924)X3 | Duplication partielle de SHANK3 | - | Exons 1 to 12 | NA (père décédé) | F |
| 34 | Xp11 | Caryotype 45,X[16]/46,X,idic(X)(p11)[9] | Mosaïcisme du chromosome X isodicentrique | - | - | NA | F |
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