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

✍ Scribed by Christine Petit; Judith Melki; Jacqueline Levilliers; Françoise Serville; Jean Weissenbach; Pierre Maroteaux

Publisher
Springer
Year
1990
Tongue
English
Weight
783 KB
Volume
85
Category
Article
ISSN
0340-6717

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✦ Synopsis

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.

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