Format

Send to:

Choose Destination
See comment in PubMed Commons below
Hum Genet. 1990 Jul;85(2):247-50.

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature.

Author information

  • 1INSERM U-163, CNRS UA-271, Institut Pasteur, Paris, France.

Abstract

In a four-generation family, chondrodysplasia punctata was found in a boy and one of his maternal uncles. These two patients also have short stature, as do all female members of the family, DNA molecular analysis of the pseudoautosomal and Xp22.3-specific loci revealed the presence of an interstitial deletion that cosegregates with the phenotypic abnormalities. The proximal breakpoint of this deletion was located distal to the DXS31 locus and the distal breakpoint in the pseudoautosomal region between DXYS59 and DXYS17. This maps the recessive X-linked form of chondrodysplasia punctata between the proximal boundary of the pseudoautosomal region and DXS31, and an Xp gene controlling growth between DXYS59 and DXS31.

PMID:
2370057
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk