Table 2 |
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|
Summary of clinical features found in individuals with common-sized 3q29 microduplication in this and previous studies. |
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|
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 |
|
|
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|
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 |
|
|
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|
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 |
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|
Ballif et al. Molecular Cytogenetics 2008 1:8 doi:10.1186/1755-8166-1-8 |
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