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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. 2018

Qing-Song Liu, and Xing-Chun Zhu, and Qiang Ma, and Cheng He, and Jian-Lan Shao
Department of Clinical Laboratory Affiliated Hospital of North Sichuan Medical College Nanchong Sichuan China.

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.

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