Table 2.
Comparative overview of the additional features in the present case and in the six reported cases with segmental upd(7q)mat.
| ADDITIONAL FEATURES | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sex | Disomic region extention | Triangular face | Fifth finger clinodactyly | Micrognathia | Low-set and/or posteriorly rotated ears | Down-turned mouth | High pitched/ squeaky voice | Speech delay | Irregular/ crowded teeth | Motor delay | Syndactyly of toes | |
| Present case | F | 7q11.23-qter | − | + | – | + | – | + | + | – | – | + |
| Su et al., 2017 | M | 7q11-qter; Mosaic | + | + | n.a | – | – | – | – | + | + | – |
| Eggermann et al., 2008 | F | 7q11.2-qter | + | – | – | + | – | – | – | – | – | + |
| Eggermann et al., 2008 | M | 7q11.2-qter | + | + | + | + | + | – | – | – | + | – |
| Reboul et al., 2006 | M | 7q21-qter; Mosaic | – | – | – | – | – | – | – | – | – | – |
| Hannula et al., 2001b | F | 7q31-qter | + | + | – | + | + | + | – | + | – | n.a |
| Begemann et al., 2012 | M | 7q32-qter | – | + | + | – | – | – | + | + | + | + |
| Total | 4/7 | 5/7 | 2/7 | 4/7 | 2/7 | 2/7 | 2/7 | 3/7 | 3/7 | 3/7 | ||
n.a, not available.