| Patients with Characterized Terminal Deletions |  | ||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 | 1 | 2 | 3 | 4 | 5 | 6 | 7 | A | B | C | D | E | F | G | H | I | J | K | L | Frequency observed/reported |
Phenotypes | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
Anterior Segment | + | + | + | + | + | + | + | + | + | - | + | + | + | + | + | - | + | + | + | 17/19 (89%) |
Hypertelorism | + | + | + | - | + | + | + | + | Â | + | Â | Â | Â | Â | + | + | - | + | + | 12/14 (86%) |
Hearing Impairment | Â | + | + | Â | + | + | - | Â | + | + | + | + | + | + | + | + | + | + | Â | 14/15 (93%) |
Short Neck | Â | Â | + | - | Â | + | + | Â | Â | - | Â | Â | Â | Â | + | - | - | - | Â | 4/9 (44%) |
Clinodactyly/ Syndactyly | Â | Â | + | - | Â | + | Â | Â | Â | + | Â | Â | Â | Â | + | - | - | Â | Â | 4/8 (50%) |
Brain Malformation | + | + | + | - | + | - | - | Â | + | + | Â | Â | Â | Â | - | + | - | - | + | 8/14 (57%) |
Heart Malformation | Â | + | + | - | + | - | - | + | + | + | Â | Â | Â | Â | + | - | - | + | + | 9/14 (64%) |
Renal Malformation | Â | + | Â | - | Â | + | Â | Â | + | - | Â | Â | Â | Â | - | - | - | - | - | 3/10 (30%) |