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...

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Detalles Bibliográficos
Autores principales: Marsudi, Bagas A., Kartapradja, Hannie, Paramayuda, Chrysantine, Batubara, Jose R. L., Harahap, Alida R., Marzuki, Nanis S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941566/
https://www.ncbi.nlm.nih.gov/pubmed/29760778
http://dx.doi.org/10.1186/s13039-018-0379-z

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