Two Males with SRY-Positive 46, XX Testicular Disorder of Sex Development

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dc.citation.epage47en_US
dc.citation.issueNumber1en_US
dc.citation.spage42en_US
dc.citation.volumeNumber59en_US
dc.contributor.authorGunes, S.en_US
dc.contributor.authorAsci, R.en_US
dc.contributor.authorOkten, G.en_US
dc.contributor.authorAtac, F.en_US
dc.contributor.authorOnat, O. E.en_US
dc.contributor.authorOgur, G.en_US
dc.contributor.authorAydin, O.en_US
dc.contributor.authorOzcelik, T.en_US
dc.contributor.authorBagci, H.en_US
dc.date.accessioned2016-02-08T09:41:07Z
dc.date.available2016-02-08T09:41:07Z
dc.date.issued2013en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstractThe 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16-and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients. © 2013 Informa Healthcare USA, Inc.en_US
dc.identifier.doi10.3109/19396368.2012.731624en_US
dc.identifier.eissn1939-6376
dc.identifier.issn1939-6368
dc.identifier.urihttp://hdl.handle.net/11693/21097
dc.language.isoEnglishen_US
dc.publisherTaylor & Francisen_US
dc.relation.isversionofhttp://dx.doi.org/10.3109/19396368.2012.731624en_US
dc.source.titleSystems Biology in Reproductive Medicineen_US
dc.subject46,XX Testicular DSDen_US
dc.subjectMosaicismen_US
dc.subjectSRY positiveen_US
dc.subjectXCIen_US
dc.titleTwo Males with SRY-Positive 46, XX Testicular Disorder of Sex Developmenten_US
dc.typeArticleen_US
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