Table 3. Clinical features in probands with a 10q22.3q23.3 deletion, with breakpoints in unique sequences.
| Patient 6 | Patient 7 | Patient 8 | |
|---|---|---|---|
| Deletion position (Mb) | 86.2–90.9 | 87.5–87.7 | 84 118–84 148 |
| LCR involvement | None | None | None |
| Inheritance | de novo | u | Inherited pat |
| Additional aberrations | − | − | − |
| Developmental delay | − | − | + |
| Autism | − | − | + |
| Hyperactivity | + | − | − |
| Seizures | − | − | + |
| OFC | >P97 | P95 | P10 |
| Height | P70 | <P3 | P50 |
| Cardiac evaluation | u | AVSD | u |
| Brain anomalies | u | NA | u |
| Dysmorphisms and congenital anomalies | Upturned nose GI polyps Hypertelorism | Prominent forehead Downsl palp fissures Hypertelorism Anteverted nares Small low set ears Diaphragmatic eventration Undescended testes | − |
Abbreviations: downsl palp fissures, downslanting palpebral fissures; GI, gastrointestinal; LCR, low-copy repeat; u, unknown.