Table 3.
Summary of array CGH and cytogenetic analyses in 1007 postnatal casesa
| Case (number) | Array CGH analysisb | Cytogenetic analysesc | Involved Gene(s) | Clinical indications |
|---|---|---|---|---|
| Aneuploidy | ||||
| 1 (3) | Duplication of whole chr.21 | Trisomy 21 | DD,MR | |
| 2 | Duplication of whole chr.X | 47,XXY | Klinefelter's syndrome | |
| 3 | Duplication of whole chr.Y | 47,XYY | ||
| Deletion/Microdeletion | ||||
| 4 | Deletion of 15Mb at 2q14q21.1 | 46,XY, der(2)t(2;6)(q21.1;q23) | Multiple | DD,MR |
| inv(2)(q14.1q37), der(6)t(2;6)(q21.1;q23) | ||||
| 5 | Deletion of 1Mb at 3q23q25 | 46,XY. ish del(3)(q23q25)(D3S1557-) | ZIC1,4 | DD,IA, CP |
| 6 | Deletion of 0.5Mb at 3q29 | 46,XY, ish del(3)(q29q29)(MF12-) | PAK2,DLG1 | DD |
| 7 | Deletion of 1Mb at 4p16.3 | 46,XX, del(4)(p16.3p16.3) | WHSC1 | WHS |
| 8 | Deletion of 0.8Mb at 4q35.1qter | 46,XX.ish del(4)(q35.1qter)(D4S187-) | Multiple | DD |
| 9(2) | Deletion of 0.8Mb at 5p15.3 | 46,XY.ish del(5)(p15.3p15.3)(D5S2774-) | Multiple | DD,MR |
| 10 | Deletion of 0.5Mb at 5q35.2 | 46,XY.ish del(5)(q35.2q35.2)(NSD1-) | NSD1 | Sotos syndrome |
| 11(2) | Deletion of 0.4Mb at 7q11.23 | 46,XY.ish del(7)(q11.23q11.23)(ELN-) | ELN | Williams syndrome |
| 12 | Deletion of 5Mb at 10p12.4p14 | 46,XY. ish del(10)(p12.4p14)(D10S585-) | NEBL | DGS2 |
| 13 | Deletion of 0.5Mb at 12q14.3 | 46,XY.ish del(12)(q14.3q14.3)(D12S1448- ) | LEMD3 | DD |
| 14 | Deletion of 5Mb at 14q32.2qter | 46,XX.ish del(14)(q32.2qter)(SHGC172944-) | Multiple | DD |
| 15(2) | Deletion of 0.5Mb at 15q11.2q11.2 | 46,XY.ish del(15)(q11.2q11.2)(SNRPN-) | SNRPN | PWS |
| 16 | Deletion of 0.4Mb at 17p11.2 | 46,XY.ish del(17)(p11.2p11.2)(PMP22-) | PMP22 | |
| 17 | Deletion of 0.8Mb at 18p11.32 | 46,XX, ring(18)(p11.32q23) | Multiple | DD |
| 18 (2) | Deletion of 2.5Mb at 22q11.2 | 46,XY.ish del(22)(q11.2q11.2)(D22S75-) | TBX1 | DGS |
| 19 (3) | Deletion of 0.5Mb at Xp22.31 | 46,X.ish del(X)(p22.31p22.31)(STS-) | STS | ichthyosis, ADHD |
| 20 | Deletion of 1Mb at Yq11.2qter | 46,X.ish del(Y)(q11.2qter)(CDY1-) | CDY1 | Azoospermia |
| Duplication/Microduplication | ||||
| 21 | Duplication of 5Mb at 1q42.2qter | 46,XY.ish dup(1)(q42.2qter)(D1S204+) | Multiple | |
| 22 | Duplication of 0.5Mb at 2q13 | 46,XX.ish dup(2)(q13q13)(NPHP1+) | NPHP1 | |
| 23 | Duplication of 3Mb at 15q11.2q12 | 46,XX.ish dup(15)(q11.2q12)(SNRPN+) | SNRPN | DD,Autism,PD |
| 24 | Duplication of 0.9Mb at 21q22 & Deletion of 0.5Mb at 21q22 | 46,XY.ish del(21)(q22q22), dup(21)(q22q22)(D21S1898+) | Multiple | DD |
| 25 (2) | Duplication of 0.9Mb at 22q11.2 | 46,XY.ish dup(22)(q11.2q11.2)(D22S75+) | TBX1 | DD |
| 26 | Duplication of 0.9Mb at Yp11.2pter | 46,X.ish i(Y)(p11.2pter)(DYS289+) | SRY | Azoospermia |
| 27 | Duplication of 3Mb at Yq11.2qter & | 46,X.ish del(X)(p22.31p22.31), | STS | Short stature,ADHD |
| Deletion of 0.5Mb at Xp22.31 | dup(Y)(q11.2qter)(STS-,CDY1+) | CDY1 | ||
| Small supernumerary marker chromosome | ||||
| 28 | Duplication of 3Mb at 18p11.2p11.3 | 47,XY,+der(18)(p11.2p11.32) | Multiple | DD |
| 29 | Duplication of 0.9Mb at 22q11.2qter | 47,XY,+mar.ish i(22)(q11.2qter)(D22S43+) | Multiple | Cat eye syndrome |
| 30 | Duplication of 2Mb at 22q11& 3Mb at 11q23 | 47,XX,+mar.ish +der(22)t(11;22)(q23;q11) (CES+,D11S4145+) | Multiple | Emanuel syndrome |
DD, developmental delay; MR, mental retardation; IA, imperforated anus; CP, cleft palate; WHS, Wolf-Hirschhorn syndrome; DGS, DiGeorge syndrome; PWS, Prader-Willi syndrome; ADHD, Attention Deficit Hyperactivity Disorder; PD, Pigmentation disorder
aData compiled from 407 PB and 600 CB.
blog2 mean green/red ratios more than the mean +2.5 SD (~ 0.25) were considered high amplifications or gains of the indicated copy number, and less than the mean -2.5 SD (~ -0.25) were considered high losses of the copy number.
cperformed by karyotype and FISH analyses. FISH analyses were performed using specific BAC clones.