The Prader-Willi syndrome with a 15/3 translocation.
A de novo translocation of 15q to 3p with complete monosomy of 15p and partial monosomy of 15q was detected by trypsin banding on peripheral lymphocytes of a 5-year-old boy with Prader-Willi syndrome (severe mental retardation, dyslalia, cryptorchidism, and muscular hypotonia). The pathogenic role o...
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| Udgivet i: | J Med Genet |
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| Principais autores: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Publishing Group
1979
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1012701/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/469905/ |
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