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Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.

Two cases of 14q proximal partial trisomy in sisters from the same family are reported. Clinical features included craniofacial dysmorphism, skin depigmentation, slight anomalies of the limbs, muscular hypertonia, and physical and mental retardation. The third sister had an abnormal phenotype, diffe...

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Autores principales: Valkova, G, Stefanova, M
Formato: Artigo
Lenguaje:Inglês
Publicado: 1993
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016240/
https://ncbi.nlm.nih.gov/pubmed/8423613
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