Table 2. Clinical features of four patients with a duplication of 10q22.3q23.2.
| Patient 9 | Sibpair patients 10–11 | Patient 12 | |
|---|---|---|---|
| Duplication position (Mb) | 79.4–86.6 | 81.6–89.0 | 81.6–89.0 |
| LCR involvement | No | LCR3–CR4 | LCR3–LCR4 |
| Inheritance | Unknown | Inherited mat | de novo |
| Additional aberrations | − | − | 16p13.1 del |
| Developmental delay | + | + | + |
| Speech delay | + | + | − |
| Seizures | − | − | |
| Birth weight | P50 | P20 | |
| Recurrent ear infections infancy | + | ||
| Current weight | P30 | P25 | |
| Current height | P50 | >P90 | |
| Current OFC | P50 | P25 | |
| Behavioural problems | Impaired social interaction | Impaired social interaction | |
| Deep-set eyes | + | + | + |
| Upslanting palpebral fissures | + | + | − |
| Hypotelorism | − | + | + |
| Low and prominent ears | + | − | − |
| Smooth philtrum | + | + | − |
| Thin upper lip | + | + | + |
| Full lower lip | + | − | + |
| Strabismus | − | + | − |
| Micrognathia | − | + | − |
| Full cheeks | + | − | + |
| Large wide spaced teeth | + | + | |
| Thin built | − | + | − |
Abbreviation: LCR, low-copy repeat.
Three patients with an LCRs3–4 duplication and one patient with a duplication in unique sequences, but sharing 5 Mb of overlap with other three duplications.