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A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development.

ABSTRACT: 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.

SUBMITTER: Liu QS

PROVIDER: S-EPMC6132170 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development.

Liu Qing-Song QS Zhu Xing-Chun XC Ma Qiang Q He Cheng C Shao Jian-Lan JL

Clinical case reports 20180707 9

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. ...[more]

PMID: 30214739

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