Table 2.
Clinical features of all probands with a 15q13 duplication. Patient 19–21 (BP4-BP5) and patient 22 (BP3-BP5).
| Patient 20 | Patient 21 | Patient 22 | Patient 23 | |
|---|---|---|---|---|
| Duplication | BP4BP5 | BP4BP5 | BP4BP5 | BP3BP5 |
| Gender | male | female | female | female |
| Age | 17 years | 4 years, 6 months | 20 years | 4 years, 10 months |
| Inheritance | NA | de novo | NA | inherited pat |
| Mental retardation | mild | mild | mild-moderate | severe |
| Epilepsy/abnormal EEG | − | − | − | − |
| Hypotonia | + | − | + | + |
| Birth weight | P50 | >p98 | NA | P3-P98 |
| Height | P30 | P50 | P3 | P25 |
| OFC | P60 | P45 | P60 | P50 |
| Current weight | NA | > P98 | NA | > P98 |
| Behaviour problems | autistic features bipolar disorder | − | preoccupation with food extremely talkative | autistic features |
| Other features | ||||
| Ocular region | synophrys | hypertelorism | slightly deep-set eyes | |
| Nose | High nasal bridge | |||
| Ears | Low set ears Recurrent ear infections |
Low set ears Recurrent ear infections |
||
| Extremities | Cut. syndactlyly fingers Brachydactyly Cut. syndactyly 2–3 toes |
Single palmar crease | ||
| Abdomen/urogenital | Cryptorchid testes | Inverted nipples | ||
| Brain MRI/CT | normal | normal | NA | normal |