Open AccessA de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development
Author(s) -
Liu QingSong,
Zhu XingChun,
Ma Qiang,
He Cheng,
Shao JianLan
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1613
Subject(s) - y chromosome , gene duplication , genetics , phenotype , disorders of sex development , gene , biology
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.