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Updated: Aug 15, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Clinical manifestations of trisomy 5q
Journal of Medical Genetics
|March 1, 1987
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.
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