Table 2.
Comparison of clinical features in four patients with duplication of 3q29
| Clinical feature |
Case 1 (Toronto; 23 months) |
Case 2 (Edinburgh; 8 years) |
Case 3 (Leiden; 16 years) |
Case 4 (Toronto; 30 years) |
|---|---|---|---|---|
| Birth weight | 2,850g (50–75th centile) | 3,080g (12th centile) | 3,200g (25th centile) | 2,150g (<3rd centile) |
| Microcephaly | – | + | not reported | – |
| Generalized obesity | – | – | + | + |
| Ocular anomalies | + | + | not reported | – |
| Palpebral fissure anomalies | + | + | + | – |
| Cleft palate | + | – | – | + |
| Dental anomalies | + | – | + | + |
| Conductive hearing loss | + | – | not reported | + |
| Structural brain anomaly | + | + | – | – |
| Developmental delay | + | + | + | + |
| Hypotonia | + | + | – | – |
| Congenital heart disease | + | + | – | – |
| Musculoskeletal anomalies | + | + | not reported | + |