Frequency of clinical features in the general SRS population compared to maternal UPD7 cases and to those with maternal duplication of 11p15 and available clinical data
| Symptom | Frequency (n = 143)* | Mat UPD7 (n = 35)† | Fisher 13 | Fisher 23‡ | SR46 | SR90 |
|---|---|---|---|---|---|---|
| *Wollmann et al5; †for a review, see Hitchins et al1; ‡diagnosis of SRS was discussed; /, not reported; –, not present. | ||||||
| Partial karyotypes | inv dup del(11) | t(11;20) | t(10;11) | t(11;15) | ||
| Gender | F | F | M | F | ||
| Birth weight <3rd percentile | 94% | 97% | + | + | + | + |
| Short stature | 99% | 100% | + | + | + | + |
| Hemihypotrophy | 51% | 34% | – | – | + | – |
| Relative macrocephaly | 64% | 70% | – | – | – | + |
| Triangular face | 79% | 62% | – | + | – | – |
| Down slanting corners of the mouth | 46% | 0% | – | + | – | – |
| Irregular teeth | 28% | / | / | + | – | |
| Ear anomalies | 53% | / | / | + | + | |
| Clinodactyly V | 68% | 56% | + | + | + | + |
| Brachydactyly V | 48% | / | / | + | + | |
| Syndactyly | 19% | + | / | – | ||
| Simian crease | 25% | / | / | (+) | – | |
| Café au lait spots | 19% | 4% | / | / | – | |
| Psychomotor retardation | 37% | 38% | + | – | + | (+) |
| Muscular hypotrophy/tony | 45% | / | – | + | – | |
| Squeaky voice | 22% | / | / | + | + | |
| Early puberty | 8% | + | Too young | – | – | |
| Precocious puberty | 5% | – | Too young | – | – | |