Clinical features in patients with 19q deletions3–7
|
Case 1 (q13) | Case 2 (q12q13.1) |
Case 3 (q13.2) |
Case 4 (q13.2) |
Case 5 (q13.2) |
Case 6 (q13.2) | Our proband (q13.33→qter) | |
| Birth weight (g) | 3400 | 1295 | 2630 | 3920 | |||
| Length (cm) | 40 | 46 | 51 | ||||
| Head circumference (cm) | 27.5 | 35 | 35 | ||||
| Gestation age (wk) | 40 | 38 | 36 | 42 | |||
| Growth retardation | + | + | + | ||||
| Psychomotor/mental retardation | + | + | + | + | + | + | |
| Lack of subcutaneous fat | Fatigue | + | − | + | |||
| Microcephaly | − | + | |||||
| Strabismus | + | + | |||||
| Broad, tall forehead | + | − | |||||
| Hypertelorism | + | + | − | ||||
| Beaked nose | − | − | + | ||||
| Malocclusion of teeth | − | + | |||||
| High palate | + | + | |||||
| Transverse palmar crease | − | + | |||||
| Skeletal anomalies | − | + | + | + | + | + | + |
| Long bones and spine | |||||||
| Congenital deafness | + | − | |||||
| Congenital heart defect | − | + | − | ||||
| Renal anomalies | + | + | − | ||||
| Anaemia | + | − | + | + | + | + | − |
| Hypotonia | + | + | − | ||||
| Spasticity of muscles | − | − | + | ||||
| Seizures | − | + | |||||
| Undeveloped sexual characteristics | − | + | |||||
| Cryptorchidism | + |
+ = present. − = not present. Blank = unreported.