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

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dc.authorscopusid6603432100
dc.authorscopusid59157694100
dc.authorscopusid18038193800
dc.authorscopusid54419415500
dc.authorscopusid15056549400
dc.authorscopusid55402094800
dc.authorscopusid7005424336
dc.contributor.authorGüneş, S.
dc.contributor.authorAşçi, R.
dc.contributor.authorÖkten, G.
dc.contributor.authorAtac, F.
dc.contributor.authorOnat, O.E.
dc.contributor.authorOgǔr, G.
dc.contributor.authorAydín, O.
dc.date.accessioned2020-06-21T14:16:28Z
dc.date.available2020-06-21T14:16:28Z
dc.date.issued2013
dc.departmentOndokuz Mayıs Üniversitesien_US
dc.department-temp[Güneş] Sezgin Özgür, Department of Medical Biology, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Aşçi] Ramazan, Department of Urology, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Ökten] Gülsen, Department of Medical Biology, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Atac] Fatih, Department of Urology, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Onat] Onur Emre, Department of Molecular Biology and Genetics, Bilkent Üniversitesi, Ankara, Ankara, Turkey; [Ogǔr] Gönül, Department of Medical Genetics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Aydín] Oǧuz, Department of Pathology, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Ozcelik] Tayfun, Department of Molecular Biology and Genetics, Bilkent Üniversitesi, Ankara, Ankara, Turkey; [Baǧci] Hasan, Department of Medical Biology, Ondokuz Mayis Üniversitesi, Samsun, Turkeyen_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.doi10.3109/19396368.2012.731624
dc.identifier.endpage47en_US
dc.identifier.issn1939-6368
dc.identifier.issn1939-6376
dc.identifier.issue1en_US
dc.identifier.pmid23110663
dc.identifier.scopus2-s2.0-84872550409
dc.identifier.scopusqualityQ2
dc.identifier.startpage42en_US
dc.identifier.urihttps://doi.org/10.3109/19396368.2012.731624
dc.identifier.volume59en_US
dc.identifier.wosWOS:000313675400008
dc.identifier.wosqualityQ2
dc.language.isoenen_US
dc.publisherInforma Healthcareen_US
dc.relation.ispartofSystems Biology in Reproductive Medicineen_US
dc.relation.journalSystems Biology in Reproductive Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_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
dspace.entity.typePublication

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