Clinical Features of Patients with Atypical Deletions within 17p11.2
| Features[i] | SMS[ii] | Not SMS | ||||||
| 540 | 1190 | 1456 | 1354 | 1615 | 1774 | 765 | 357 | |
| Craniofacial | ||||||||
| Midfacial hypoplasia | + | + | + | + | + | + | + | − |
| Brachycephaly | − | + | − | − | + | + | + | − |
| Broad face | − | + | + | + | + | + | − | − |
| Abnormal ears | − | + | + | − | − | + | − | − |
| Down-turned mouth | + | + | + | + | + | + | − | − |
| Skeletal | ||||||||
| Short, broad hands | + | + | − | + | + | − | + | − |
| Short stature | + | + | + | + | − | + | − | − |
| Neuro/behavioral | ||||||||
| Mental retardation | + | + | + | + | + | + | + | + |
| Speech delay | + | + | + | + | + | + | + | + |
| Motor delay | − | + | + | + | + | + | + | + |
| Sleep disturbance | + | + | + | + | + | + | − | − |
| Self-destructive | + | + | − | + | + | + | − | − |
| Aggressive/tantrums | + | + | + | + | + | + | − | − |
| Self-hugging or hand clasp | ? | + | − | + | ? | − | − | − |
| Otolaryngologic | ||||||||
| Middle ear | + | − | + | + | − | + | − | − |
| Palatal anomaly/dysfunction | − | − | + | + | − | − | − | NA |
| Age at evaluation | 15 y | 26 y | 7 y | 7 y | 6 y | 4 y | 17 y | 6 y |
| Gender | M | M | F | F | F | M | M | M |
[i] Found in >70% of patients.
[ii] +, feature present; −, feature absent; NA, not assessed.