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