Related Experiment Videos
X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus
L Van Maldergem1, M Espeel, F Roels
1Centre de Génétique Humaine, Institut de Morphologie Pathologique, Loverval, Belgium.
Human Genetics
|October 1, 1991
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.