一名患有性发育障碍的女性体内的一条新生衍生Y染色体（Yq部分缺失以及Yp和Yq部分重复）
A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development.
作者信息
Liu Qing-Song, Zhu Xing-Chun, Ma Qiang, He Cheng, Shao Jian-Lan
机构信息
Department of Clinical Laboratory Affiliated Hospital of North Sichuan Medical College Nanchong Sichuan China.
Pathogenic Biology and Immunology Experiment Teaching Center North Sichuan Medical College Nanchong Sichuan China.
出版信息
Clin Case Rep. 2018 Jul 7;6(9):1671-1676. doi: 10.1002/ccr3.1613. eCollection 2018 Sep.
We report an atypical disorders of sex development (DSD) case with no mutation of SYR gene but partial Yq deletion and partial duplication of Yp and Yq. This case emphasizes duplicated region Yp11.2→Yq11.223 with partial deletion of Yq11.223→Yqter most probably perturbed the sex differentiation and led to female phenotype.
我们报告了一例性发育异常（DSD）非典型病例，该病例无SRY基因突变，但存在Yq部分缺失以及Yp和Yq部分重复。该病例强调Yp11.2→Yq11.223区域重复，同时Yq11.223→Yqter部分缺失，极有可能扰乱了性别分化并导致女性表型。
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