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Chondrodysplasia punctata with X;Y translocation
K Agematsu1, K Koike, H Morosawa
1Department of Pediatrics, Sinshu University School of Medicine, Matsumoto, Japan.
Insights
A family with an X;Y translocation (der(X)t(X;Y)) showed affected mother and son. The son presented with chondrodysplasia punctata, indicating a potential link between X chromosome abnormalities and this condition.
Area of Science:
- Genetics
- Medical Genetics
- Human Genetics
Background:
- X;Y translocations are rare chromosomal abnormalities.
- Chondrodysplasia punctata (CDPX) is a group of genetic disorders characterized by stippled epiphyses.
Abstract:
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.