46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.

An infant with neutropenia, properdin deficiency, and a 46,XY/46,XY,21q- mosaicism is described. It is not known whether these two findings are related to the missing 21q material. The propositus is normal in appearance, and has none of the phenotypic features associated with the G-group deletion sy...

ver descrição completa

Detalhes bibliográficos

Publicado no:	J Med Genet
Principais autores:	Neu, R L, Stockman, J A, Spitzer, R E, Tomar, R H
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMJ Publishing Group 1976
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013428/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/957385/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.13.4.332
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!