Cargando...

A case of 49,XXXXX in which the extra X chromosomes were maternal in origin

This report describes an 11 month old female baby with features of pentasomy X. A molecular and cytogenetic evaluation revealed that her karyotype was 49,XXXXX and her extra X chromosomes were of maternal origin. She has muscular hypotonia, mental retardation, a cleft palate, mild hydrocephalus as a...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Cho, Y G, Kim, D S, Lee, H S, Cho, S C, Choi, S I
Formato: Artigo
Lenguaje:Inglês
Publicado: Copyright 2004 Journal of Clinical Pathology 2004
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1770429/
https://ncbi.nlm.nih.gov/pubmed/15333671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jcp.2004.017475
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!