Clinical features described in patients with monosomy 5p1 2 8 and with trisomy 5p12–20 compared to those observed in cases 1 and 2
| Clinical feature | 5p monosomy | 5p trisomy | Case 1 | Case 2 |
|---|---|---|---|---|
| Low birth weight | □ | □ | □ | |
| Early death | • | |||
| Cat-like cry | □ | □ | □ | |
| Microcephaly | □ | □ | □ | |
| Macrodolichocephaly | • | |||
| Hydrocephalus | • | |||
| Round face | □ | |||
| Broad nose bridge | □ | □ | ||
| Downward slanting palpebral fissures | □ | □ | □ | |
| Upward slanting palpebral fissures | • | |||
| Hypertelorism | □ | • | □• | □• |
| Epicanthic fold | □ | • | □• | □• |
| Strabismus | □ | □ | ||
| Bulbous nose | • | • | ||
| Low set ears | □ | • | □• | □• |
| Preauricular tags | □ | □ | ||
| Narrow, high arched palate | □ | □ | ||
| Transverse flexion creases | □ | □ | ||
| Clinodactyly | □ | • | □• | |
| Brachymetacarpals | □ | □ | ||
| Brachymetatarsals | □ | □ | ||
| Cerebral malformations | • | • | ||
| Congenital heart defect | □ | • | ||
| Gut malformations | • | |||
| Kidney malformations | • | |||
| Club foot | □ | • | ||
| Flat arches of feet | □ | □ | □ | |
| Short first toes | • | |||
| Anteriorly placed anus | • | |||
| Feeding difficulty | □ | □ | □ | |
| Recurrent infections | □ | • | □• | |
| Seizures | □ | • | □• | |
| Psychomotor retardation | □ | • | □• | □• |