A rare unbalanced Y:autosome translocation in a Turner syndrome patient

作者：Yao, Ruen; Yu, Ding; Wang, Jian; Wang, Xiumin; Shen, Yiping^*

来源：Journal of Pediatric Endocrinology & Metabolism, 2018, 31(3): 349-353.

DOI：10.1515/jpem-2017-0244

• short stature
• Y:autosome translocation
• Yp deletion

Background: Y:autosome translocations are reported to be associated with male infertility and azoospermia. Female cases with Y:autosome translocation are extremely rare. @@@ Case presentation: We report a unique case of a rare unbalanced translocation t(Y; 13) in a 12-year-old girl with Turner syndrome. Combined cytogenetic testing helped to demonstrate the detail of rare chromosomal structural rearrangement in this patient. @@@ Conclusions: The presented case showed femaleness phenotype and failure of masculinization with presence of Y chromosome and the SRY gene. She was treated with growth hormone (GH) therapy after confirming the presence of only female internal gonad with laparoscopy.

• 出版日期2018-3
• 单位上海交通大学