Table 2 Details of imbalances found using the MLPA microdeletion kit
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 | Â |