Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

BACKGROUND: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Marsudi, Bagas A., Kartapradja, Hannie, Paramayuda, Chrysantine, Batubara, Jose R. L., Harahap, Alida R., Marzuki, Nanis S.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5941566/
https://ncbi.nlm.nih.gov/pubmed/29760778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0379-z
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados