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

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 study^a with feature	Number of individuals reported to date with feature/Number of individuals reported to date
Mild/moderate mental retardation	3	3^b	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

ISSN: 1755-8166