TABLE I.
Clinical Findings Present in Patients With Duplication 5q11.2 → q13.3 Trisomy
Manifestation | Propositus | Uncle |
---|---|---|
Bossed forehead | + | + |
Flat occiput | + | + |
Hypertelorism | + | + |
Short stature | + | + |
Obesity | + | + |
Short 4th and 5th metacarpals | + | + |
Scoliosis | − | + |
Renal abnormalities | + | + |
Small phallus | + | + |
Low average intelligence | + | + |
Schizophrenia | + | + |