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Table 2 Summary of clinical features found in individuals with common-sized 3q29 microduplication in this and previous studies.

From: Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

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
  1. 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