A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development. Issue 9 (7th July 2018)

• Record Type: Journal Article
• Authors: Liu, Qing‐Song; Zhu, Xing‐Chun; Ma, Qiang; He, Cheng; Shao, Jian‐Lan
• Is Part Of: Clinical case reports. Volume 6:Issue 9(2018)
• Page Start: 1671
• Page End: 1676
• Publication Date: 2018-07-07
• Subjects: disorders of sex development -- karyotype -- SRY; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1613
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.