Table 4. Clinical features of probands with small sized 10q22.3q23.3 duplications with breakpoints in unique sequences.
| Patient 13 | Patient 14 | |
|---|---|---|
| Duplication position (Mb) | 84.5–84.8 | 84.2–85 |
| LCR involvement | No | No |
| Inheritance | Inherited pat | Inherited pat |
| Additional aberrations | − | Inh 6q25.1 dup |
| Developmental delay | − | − |
| Speech delay | + (Blindness related) | − |
| Seizures | − | − |
| Birth weight | P50 | <P3 |
| Current height | P10 | P75 |
| Current weight | P3 | >P97 |
| Deep-set eyes | + | − |
| Full lower lip | + | − |
| Strabismus | + | − |
| Anteverted nares | + | − |
| Full cheeks | + | − |
| Urogenital anomalies | − | + |
| Cardiac defect | − | + |
| Fusion of sacral vertebrae | − | + |
| Long slender ribs and clavicles | − | + |
Abbreviation: LCR, low-copy repeat.
On the basis of phenotype and inheritance pattern, these aberrations most likely represent non-pathogenic variants.