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De novo simultaneous reciprocal translocation and deletion.
A female infant with severe mental retardation, general hypotonicity, and a history of generalised oedema, cyanosis, heart murmur, and nystagmus in the first days of life was found to have both a translocation and a deletion. Her karyotype was 46,XX,del(21)t(18;21)(18p ter leads to 18q11::21q21 lead...
Enregistré dans:
| Publié dans: | J Med Genet |
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| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
1978
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013666/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/641951/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.15.2.152 |
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