Pure partial trisomy of the short arm of chromosome 5

M O Rethoré; M C Blois; M Peeters; P Popowski; C Pangalos; J Lejeune

doi:10.1007/BF00291177

Pure partial trisomy of the short arm of chromosome 5

Hum Genet. 1989 Jun;82(3):296-8. doi: 10.1007/BF00291177.

Authors

M O Rethoré¹, M C Blois, M Peeters, P Popowski, C Pangalos, J Lejeune

Affiliation

¹ Recherches INSERM, Institut de progenèse, Paris, France.

PMID: 2731942
DOI: 10.1007/BF00291177

Abstract

We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32----5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Banding
Chromosomes, Human, Pair 5*
Female
Humans
Infant
Karyotyping
Male
Pedigree
Trisomy*