Chondrodysplasia punctata with X;Y translocation.
We have studied a family in which the mother and her son were carriers of an X;Y translocation, der(X)t(X;Y) (p22.3;q11). The mother was of slightly short stature and had mildly short upper extremities. The son had epiphyseal punctate calcifications, mildly short extremities, a flattened nasal bridge, and mental retardation (chondrodysplasia punctata). The extra bands on the short arm of the X chromosome were identified as deriving from the long arm of the Y chromosome, using in situ hybridization with a Y-chromosome-specific DNA probe (pHY10). The chondrodysplasia punctata seen in our case may be associated with the abnormality of the distal short arm of the X chromosome caused by X;Y translocation.
Agematsu
K
K
Department of Pediatrics, Sinshu University School of Medicine, Matsumoto, Japan.
Koike
K
K
Morosawa
H
H
Nakahori
Y
Y
Nakagome
Y
Y
Akabane
T
T
D002806:Chondrodysplasia Punctata / Q000235:genetics*; D002871:Chromosome Banding; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome