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 | □ | • | □• | □• |