Summary
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.
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Agematsu, K., Koike, K., Morosawa, H. et al. Chondrodysplasia punctata with X;Y translocation. Hum Genet 80, 105–107 (1988). https://doi.org/10.1007/BF00451470
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DOI: https://doi.org/10.1007/BF00451470