Table 2.
Genetic mechanisms among BWS-positive samples
| Causes of BWS by genetic mechanism | Total number (percentage) | ART pregnancies number (percentage) | Non-ART pregnancies number (percentage) |
|---|---|---|---|
| Loss of methylation of IC2 on maternal chromosome | 36a | 15 | 21 |
| Gain of methylation of IC1 on maternal chromosome | 2 | 0 | 2 |
| Paternal UPD11 | 2 | 1 | 1 |
| Total | 40 (100%) | 16 (40.0%) | 24 (60.0%) |
BWS Beckwith-Wiedemann syndrome
aIn 4 of 36 samples, only IC2 was analyzed