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Hum Genet. 1991 Oct;87(6):661-4.

X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.

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1
Centre de Génétique Humaine, Institut de Morphologie Pathologique, Loverval, Belgium.

Abstract

A case of X-linked recessive chondrodysplasia punctata (CP) is described. The finding of a reciprocal X-Y translocation involving the region distal to Xp22.3 and the presence of fluorescent Yp11.23 regions confirms the localization of X-linked recessive CP at p22.3. No gross peroxisomal abnormalities were present in the propositus.

PMID:
1937466
[Indexed for MEDLINE]
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