Clinical and molecular analysis of a patient with X-chromosome pentasomy

"Introduction: Pentasomy X is a rare chromosomal disorder which affects women. It was first described in 1963 by Kesaree and Wooley. Up to date, less than 30 cases have been reported. We report a case of 28 month old female patient with clinical features of Pentasomy X. Cytogenetic and molecula...

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Detalles Bibliográficos
Autores Principales: Arbelaez H.E.M., Aldana C.T.S., Bravo N.C.C., Ospina S.Y., Mendoza D.J.F.
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: 2010
Materias:
Dna
Acceso en línea:https://repository.urosario.edu.co/handle/10336/23344