|
Details of abnormalities found using the MLPA subtelomere kit |
|||
| Patient |
Age |
MLPA ST |
Follow-up |
|
|
|||
| 24 |
7 |
del 2q (1), dup 22q (2) |
confirmed by FISH |
| 19 |
3 |
del 3p (1) |
|
| 27 |
11 |
del 3p (2) |
carried by maternal aunt |
| 17 |
2 |
del 4q (1) |
|
| 26 |
22 |
dup 5q (2) |
|
| 30 |
3 |
dup 5q (2) |
|
| 29 |
6 |
dup 6p (2) |
carried by affected sister |
| 28 |
3 |
dup 8p (1) |
confirmed by FISH |
| 16 |
3 |
del 8p (2) |
confirmed by FISH |
| 31 |
35 |
del 8p (1) |
|
| 18 |
9 |
dup 9p (1), dup XYp (2), del XYq (2) |
9pdup maternal, abnormal Y confirmed by FISH |
| 21 |
4 |
dup 9p (1) |
maternal |
| 25 |
2 |
dup 9p (1) |
paternal |
| 20 |
7 |
dup 16p (1) |
maternal |
| 32 |
1 |
dup 21q (1) |
|
| 22 |
2 |
dup XYp (2) |
paternal |
| 23 |
2 |
dup XYq (2) |
confirmed by FISH |
| 3 |
5 |
dup 7q (2), del 10q (2) |
abnormal karyotype |
| 6 |
1 |
dup XYp, dup XYq |
abnormal karyotype |
| 10 |
2 |
dup XYp, dup XYq |
abnormal karyotype |
| 4 |
1 |
del 20p |
abnormal karyotype |
| 9 |
1 |
XXY |
abnormal karyotype |
|
Numbers in parentheses indicate the number of probes showing abnormal copy number. "confirmed by FISH" indicates that a probe for the relevant subtelomere region showed a concordant result. | |||
Ahn et al. Molecular Cytogenetics 2008 1:2 doi:10.1186/1755-8166-1-2 |
|||