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Mental retardation with 45 chromosomes 45,XX,--5,--14,+der(5) t(5,14)(p15;q13) mat due to familial balanced reciprocal translocation.

A girl with severe mental retardation and odd facies and some features of the cri-duchat syndrome was found to have only 45 chromosomes. Her karyotype was 45,XX, -5, -14,+der(5) t(5,14)(p15;q13) mat. Her mother and her two sisters were found to be balanced reciprocal translocation carriers having 46...

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Detalhes bibliográficos
Main Authors: Fried, K, Tieder, M, Beer, S, Rosenblatt, M, Krespin, H I
Formato: Artigo
Idioma:Inglês
Publicado em: 1977
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1013512/
https://ncbi.nlm.nih.gov/pubmed/839506
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