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

Qing-Song Liu; Xing-Chun Zhu; Qiang Ma; Cheng He; Jian-Lan Shao

doi:10.1002/ccr3.1613

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

Clin Case Rep. 2018 Jul 7;6(9):1671-1676. doi: 10.1002/ccr3.1613. eCollection 2018 Sep.

Authors

Qing-Song Liu¹, Xing-Chun Zhu², Qiang Ma¹, Cheng He¹, Jian-Lan Shao³

Affiliations

¹ Department of Clinical Laboratory Affiliated Hospital of North Sichuan Medical College Nanchong Sichuan China.
² Pathogenic Biology and Immunology Experiment Teaching Center North Sichuan Medical College Nanchong Sichuan China.
³ Department of Obstetrics and Gynecology Affiliated Hospital of North Sichuan Medical College Nanchong Sichuan China.

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.

Keywords: SRY; disorders of sex development; karyotype.

Publication types

Case Reports