Patient | No. Duplication | Verification Method | Sex | Age | Origin | Neurological symptoms | Other anomaly |
---|---|---|---|---|---|---|---|
1 | 15q11.2 | MLPA | Male | 7 | de novo | MR | - |
2 | Xp22.3 | MLPA | Male | 6 | N/A | MR | N/A |
3 | Xp22.3 | MLPA | Male | 6 | N/A | MRseizure | - Bilateral cleft lips |
- Left cleft palate | |||||||
- Thalassemia hemoglobin E trait | |||||||
4 | 11p15.5 | MLPA | Female | 3 | N/A | MR | - Choanal atresia |
- Coloboma of right upper and lower eyelids | |||||||
- Right cleft lip | |||||||
5 | 1p36.33 | Real-time PCR | Female | 1 | N/A | MR | Flat head with frontal bossing |