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Karyotypes in patients found to have abnormalities on G-banded chromosome analysis |
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| 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 |
|
NAD – No abnormality detected | ||||
Ahn et al. Molecular Cytogenetics 2008 1:2 doi:10.1186/1755-8166-1-2 |
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