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Clinical manifestations of trisomy 5q.

Year: 1987

Type: article

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.

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.24.3.180

Authors: D Kumar, P R Heath, C E Blank

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2018482750

FWCI:

Cites: 11

Cited by: 26

Related to: 10