X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.
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.
Van Maldergem
L
L
Centre de Génétique Humaine, Institut de Morphologie Pathologique, Loverval, Belgium.
Espeel
M
M
Roels
F
F
Petit
C
C
Dacremont
G
G
Wanders
R J
RJ
Verloes
A
A
Gillerot
Y
Y
D000328:Adult; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D005313:Fetal Death; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007150:Immunohistochemistry; D007621:Karyotyping; D008297:Male; D008830:Microbodies / Q000648:ultrastructure; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome
D004247:DNA