Clinical findings in reported patients with duplications of chromosome 1 including at least parts of segments 1p21
| Finding | 11-150 | 21-150 | 31-150 | 41-150 | This report |
|---|---|---|---|---|---|
| Age at examination (y/mth) | 5/6 | 30/1 | 0/1 | 0/10 | 3/0 |
| Short stature | + | − | + | + | − |
| Low birth weight | − | + | + | + | − |
| Microcephaly | ? | + | + | + | + |
| Sloping forehead | − | − | ? | + | − |
| Prominent forehead | − | − | − | ? | + |
| Arched eyebrows | − | + | − | − | − |
| Long eyelashes | − | − | − | + | − |
| Blepharophimosis | − | + | ? | − | − |
| Hypertelorism | + | + | + | + | + |
| Epicanthic folds | + | − | − | ? | − |
| Strabismus | − | − | O | + | − |
| Upward slanting palpebral fissures | − | + | − | − | − |
| Midface hypoplasia | + | + | − | − | − |
| Round face | + | − | − | − | + |
| Small nose with anteverted nares | − | − | − | + | − |
| Long philtrum | − | − | − | + | − |
| High palate | ? | ? | ? | ? | + |
| Cleft palate | − | + | + | − | + |
| Small mandible | − | + | + | + | − |
| Simple/dysplastic ears | − | + | + | − | − |
| Large ears | ? | ? | − | + | + |
| Low set ears | − | − | + | + | + |
| Preauricular fistulas | b | − | − | − | − |
| VSD | + | − | − | − | − |
| Other cardiac anomalies | − | − | − | − | + |
| Sacral dimple | + | + | ? | ? | + |
| Spina bifida occulta | + | − | − | − | − |
| Inguinal hernia | − | − | O | + | − |
| Cryptorchidism | F | F | F | + | − |
| Small hands, brachydactyly | + | ? | + | ? | + |
| Clinodactyly of 5th fingers | ? | + | ? | + | + |
| Dysplastic nails | − | − | ? | − | − |
| Single palmar creases | − | − | − | − | − |
| Syndactyly 4/5 toes | + | − | − | − | − |
| Duplicated segment of 1p | p31-p21 | p31-p21 | p31-p11 | p32-p21.2 | p22.1-p13.3 |
↵1-150 Reference nos.
F = female.
b = bilateral.
O = feature not yet evaluable.
? = unknown/no information.