Partial duplication of the short arm of chromosome 9 (p13 leads to p22) in a child with typical 9p trisomy phenotype

J P Fryns; P Casaer; H Van den Berghe

doi:10.1007/BF00291926

Partial duplication of the short arm of chromosome 9 (p13 leads to p22) in a child with typical 9p trisomy phenotype

Hum Genet. 1979 Jan 25;46(2):231-5. doi: 10.1007/BF00291926.

Authors

J P Fryns, P Casaer, H Van den Berghe

PMID: 422206
DOI: 10.1007/BF00291926

Abstract

A 3-year-old girl with duplication 9 (p22 leads to p13) is reported. The presence of a classical 9p trisomy phenotype in this patient suggests that this region (or part of it) is responsible for the major, typical clinical stigmata of this partial autosomal trisomy syndrome.

Publication types

Case Reports

MeSH terms

Child, Preschool
Chromosome Banding
Chromosomes, Human, 6-12 and X*
Female
Humans
Intellectual Disability / genetics*
Psychomotor Disorders / genetics*
Trisomy*