Table 2 Molecular defects of patients with clinical diagnosis of BWS (n = 21, BWS score ≥ 4) or suspected BWS (n = 10, BWS score ≥ 2 and < 4)
IC2 LOM | IC1 GOM | pUPD11 | Unknown | |
|---|---|---|---|---|
Clinical diagnosis (n = 21) | 7 (33.3%) | 5 (23.8%) | 1 (4.8%) | 8 (38.1%) |
Suspected (n = 10) | 3 (30.0%) | 0 (0%) | 0 (0%) | 7 (70.0%) |
Total (n = 31) | 10 (32.2%) | 5 (16.1%) | 1 (3.2%) | 15 (48.4%) |