46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China

46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China

The present study describes the first prenatally diagnosed 46,XX testicular disorders of sex development (46,XX testicular DSD) case with DMD gene mutation by integrated analyses in a Chinese pedigree. Chromosome karyotype G-banding analysis of the proband showed a 46,XX karyotype, but B-ultrasound...

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Bibliographic Details
Main Authors: Jianlian Deng, Haoqing Zhang, Caiyun Li, Hui Huang, Saijun Liu, Huanming Yang, Kaili Xie, Qiong Wang, Dongzhu Lei, Jing Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Genetics
Subjects:
integrated analyses
46,XX testicular DSD
Duchenne muscular dystrophy
prenatal
genetic counseling
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.01350/full

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