|
Details of imbalances found using the MLPA microdeletion kit |
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| Patient |
Age |
MLPA MD |
Follow-up |
|
|
|||
| 4 |
1 |
Alagille duplication |
abnormal karyotype, de novo |
| 11 |
1 |
Prader-Willi deletion |
confirmed by FISH, de novo |
| 12 |
11 |
Williams deletion |
confirmed by FISH |
| 13 |
3 |
Williams deletion |
confirmed by FISH |
| 14 |
9 |
DiGeorge duplication |
confirmed by FISH |
| 15 |
5 |
DiGeorge partial duplication |
confirmed by FISH |
| 16 |
3 |
DiGeorge duplication |
|
Ahn et al. Molecular Cytogenetics 2008 1:2 doi:10.1186/1755-8166-1-2 |
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