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

Open Data