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Maternal uniparental disomy for chromosome 14.
We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he...
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| Publicado no: | J Med Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1991
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016977/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1681108/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.8.511 |
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