Clinical characteristics of patients with a deletion of the long arm of chromosome 16 including 16q12.1 or 16q13
| Present case q11.2q21 | Reference | |||||||
|---|---|---|---|---|---|---|---|---|
| 12 | 17 | 18 | 25 | 11 | 16 | 19 | ||
| q12.1q13 (twins) | q12.1 (sibs) | q11.1q13 | q12.1q13 | q13 | q13 | q13q21 | ||
| Auricular malformation | + | + + | + + | + | + | + | + | + |
| Deafness | ? | + − | − − | ? | SN | SN | − | |
| Hands | Polydact | Small | T T | Small | SC | SC | Small | Polydact |
| Heart defects | + | − + | − − | + | − | + | − | + |
| Anal malformations | + | + − | − − | − | − | Ectopic | + | |
| Kidney hypo/agenesis | + | − − | + + | ? | − | + | + | − |
| Malposition of toes | + | + + | + + | + | + | + | − | − |
SN = sensorineural deafness; polydact = preaxial polydactyly; T = proximally placed thumbs; SC = simian creases.