Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation

I D Young; J M Zuccollo; E L Maltby; N J Broderick

doi:10.1136/jmg.29.4.251

Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation

J Med Genet. 1992 Apr;29(4):251-2. doi: 10.1136/jmg.29.4.251.

Authors

I D Young¹, J M Zuccollo, E L Maltby, N J Broderick

Affiliation

¹ Department of Clinical Genetics, City Hospital, Nottingham.

Abstract

A phenotypically female fetus with campomelic dysplasia and a de novo reciprocal translocation, 46,XY,t(2;17) (q35;q23-24), is presented. This is the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 has been identified, indicating that this is likely to be the site of the campomelic dysplasia locus.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Abnormalities, Multiple / pathology
Chromosome Banding
Chromosomes, Human, Pair 17*
Chromosomes, Human, Pair 2*
Disorders of Sex Development
Fetus / pathology
Humans
Male
Osteochondrodysplasias / genetics*
Osteochondrodysplasias / pathology
Translocation, Genetic*