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Table 2 Details of imbalances found using the MLPA microdeletion kit

From: Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

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