Case (number) | Array CGH analysis b | Cytogenetic analyses c |
---|---|---|
 |  | Aneuploidy |
1 (1) | Duplication of whole chr.13 | Trisomy 13 |
2 (7) | Duplication of whole chr.18 | Trisomy 18 |
3 (28) | Duplication of whole chr.21 | Trisomy 21 |
4 (6) | Duplication of whole chr.X | 47,XXX |
5 (7) | Duplication of whole chr.X | 47,XXY |
6 (1) | Duplication of whole chr.X | |
7 (1) | Copy number ratio of less than one copy loss at chr. 9 | |
8 (1) | Copy number ratio of less than one copy loss at chr.X | |
9 (1) | Duplication of whole chr.X and 18 | 48,XXY,+18 |
10 (1) | Duplication of long arm at Xq10qter/whole chr. 9 | 47,X,i(X)(q10),+9 |
11 (4) | Deletion of whole chr.X | 45,X |
12 (1) | Copy number ratio of less than one copy loss at chr.X | |
13 (1) | Copy number ratio of less than one copy loss at chr.X | |
 |  | Deletion/Microdeletion |
14 (2) | Deletion of 0.5Mb at 2q13 | 46,XX,ish del(2)(q13q13)(NPHP1-) |
15 (1) | Deletion of 0.4Mb at 7q11.23 | 46,XY.ish del(7)(q11.23q11.23)(ELN-) |
16 (2) | Deletion of 0.4Mb at 17p11.2 | 46,XX.ish del(17)(p11.2p11.2)(D17S29-) |
 | Deletion of 0.4Mb at 17p11.2 | 46,XY.ish del(17)(p11.2p11.2)(D17S29-) |
17 (1) | Deletion of 0.5Mb at Xp22.31 | 46,XY.ish del(X)(p22.31p22.31)(STS-) |
18 (1) | Deletion of 25Mb at Xq24qter | 46,X,del(X)(q24qter) |
 |  | Duplication/Microduplication |
19 (1) | Duplication of 10Mb at 1q42q44 | 46,XY.ish dup(1)(q42.1q44)(D1S491+) |
20 (2) | Duplication of 1.3Mb at 15q11.2q12 | 46,XX.ish dup(15)(q11.2q12)(SNRPN+) |
21 (2) | Duplication of 1.5Mb at 22q11.2 | 46,XY.ish dup(22)(q11.2q11.2)(COMT+) |
22 (1) | Duplication of 0.5Mb at Xp22.31 | 46,XX.ish dup(X)(p22.31p22.31)(KAL1+) |
23 (1) | Duplication of 0.5Mb at Xp21.2 | 46,XY.ish dup(X)(p21.2p21.2)(DMD+) |
24 (1) | Duplication of 5Mb at Xq27.2qter. | 46,XY,ish dup(X)(q27.2qter)(DX904+) |
 |  | Small supernumerary marker chromosome |
25 (2) | Normal | 47,XX,+mar |
 | Normal | 47,XY,+mar |
26 (80) | Normal | Othersd |