Clinical manifestations of trisomy 5q.
Open Access
- 1 March 1987
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (3) , 180-184
- https://doi.org/10.1136/jmg.24.3.180
Abstract
A patient with a small deletion of the short arm and a partial duplication of the long arm of chromosome 5 is described. The main clinical features include craniofacial dysmorphism, growth failure, developmental retardation, and congenital heart defect. The mother and male sib each carried an inv(5) (p15.3q35) but were phenotypically normal. The possible clinical manifestations of partial duplication of the long arm of chromosome 5 are discussed with a review of previous published reports.Keywords
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