Table 2 |
|||
|
Summary of clinical features found in individuals with common-sized 3q29 microduplication in this and previous studies. |
|||
| Feature |
Number of individuals in present study with feature |
Number of individuals in previous studya with feature |
Number of individuals reported to date with feature/Number of individuals reported
to date |
|
|
|||
| Mild/moderate mental retardation |
3 |
3b |
6/8 |
| Craniosynostosis |
1 |
0 |
1/8 |
| Macrocephaly |
1 |
0 |
1/8 |
| Microcephaly |
1 |
4 |
5/8 |
| High palate |
1 |
0 |
1/8 |
| Ventricular septal defect |
1 |
0 |
1/8 |
| Excessive hand creases |
0 |
2 |
2/8 |
| Pes planus |
0 |
2 |
2/8 |
| Obesity |
1 |
3 |
4/8 |
|
|
|||
|
a [ref. 7] round face and bulbous nose were also noted, but these traits may be familial; bthree of five family members were old enough for testing |
|||
|
Ballif et al. Molecular Cytogenetics 2008 1:8 doi:10.1186/1755-8166-1-8 |
|||
