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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.
Human Genetics
|September 1, 1988
Summary
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.