Table 1 Karyotypes in patients found to have abnormalities on G-banded chromosome analysis
Patient | Age | Karyotype | MLPA MD | MLPA ST |
|---|---|---|---|---|
1 | 5 | 46,X,der(Y)inv(Y)(p11q11.2)Yqs pat.ish der(Y)(DXYS130 st,DXYS224 st) | NAD | NAD |
2 | 6 | 46,XX,del(12)(q21.1q21.2) | NAD | NAD |
3 | 5 | 46,XX,der(10)t(7;10)(q36.1;q26.3).ish der(10)(D10S2490-,D7S427+) | NAD | del 10q |
4 | 1 | 46,XX,der(20)dup(20)(p13p11.2)del(20)(p13)dn.ish der(20)(D20S1156-,wcp20+,pcp20p+, pcp20q+,RH44234+) | Alagille duplication | del 20p |
5 | 5 | 46,XX,inv(18)(q12.2q23) | NAD | NAD |
6 | 1 | 46,XY,?v21pss | NAD | dup XYq |
7 | 1 | 46,XY,del(7)(p1?4.2p1?5.1) | NAD | NAD |
8 | 3 | 46,XY,inv(1)(p36.22p36.33)mat.ish inv(1)(CEB108 st,D1Z2 mv) | NAD | NAD |
9 | 1 | 47,XXY | NAD | XXY |
10 | 2 | 48,XXYY | NAD | dup XYp, dup XYq |