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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...

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Detalhes bibliográficos
Main Authors: Fries, K, Mundel, G, Rosenblatt, M
Formato: Artigo
Idioma:Inglês
Publicado em: 1978
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1013666/
https://ncbi.nlm.nih.gov/pubmed/641951
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