FRAXF in a patient with chromosome 8 duplication.

We report on a folate sensitive fragile site at Xq27-28 in a girl with a multiple congenital anomalies and mental retardation syndrome, who also carries a duplication of the long arm of chromosome 8. The fragile site was shown by FISH to be distal to both FRAXA and FRAXE. DNA hybridisation with prob...

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Detalhes bibliográficos
Main Authors: Vianna-Morgante, A M, Mingroni-Netto, R C, Barbosa, A C, Otto, P A, Rosenberg, C
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050674/
https://ncbi.nlm.nih.gov/pubmed/8818952
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