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

A rare unbalanced Y:autosome translocation in a Turner syndrome patient AbstractBackground: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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Pediatric Endocrinology and Metabolism de Gruyter

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

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Publisher
De Gruyter
Copyright
©2018 Walter de Gruyter GmbH, Berlin/Boston
ISSN
2191-0251
eISSN
2191-0251
D.O.I.
10.1515/jpem-2017-0244
Publisher site
See Article on Publisher Site

Abstract

AbstractBackground: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.

Journal

Journal of Pediatric Endocrinology and Metabolismde Gruyter

Published: Mar 28, 2018

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