Disruption of HDX gene in premature ovarian failure

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dc.citation.epage222en_US
dc.citation.issueNumber4en_US
dc.citation.spage218en_US
dc.citation.volumeNumber59en_US
dc.contributor.authorOkten, G.en_US
dc.contributor.authorGunes, S.en_US
dc.contributor.authorOnat, O. E.en_US
dc.contributor.authorTukun, A.en_US
dc.contributor.authorOzcelik, T.en_US
dc.contributor.authorKocak, I.en_US
dc.date.accessioned2016-02-08T09:36:48Z
dc.date.available2016-02-08T09:36:48Z
dc.date.issued2013en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstractWe present a case of a 19-year-old phenotypically normal girl with premature ovarian failure. Cytogenetic analysis using G banding and fluorescence in situ hybridization (FISH) from cultured peripheral blood lymphocytes of the patient and the family revealed a de novo X;15 translocation and the imbalance to be 46,X,t(X;15)(Xpter → Xq21::15q11 → 15qter;15pter → 15q11::Xq21 → Xqter). ish (CEPX+, wep15+, ISNRPN+, PML+, D15S10+, wcp15-, SNRRN-, PML-)[20]. The X chromosome inactivation (XCI) assay revealed a completely skewed XCI pattern in which selective pressure favors an active maternal allele. The Affymetrix 2.7 M cytogenetics whole-Genome array confirmed the chromosomal imbalance and identified disruption of the HDX gene at Xq21, the translocation breakpoint. © 2013 Informa Healthcare USA, Inc.en_US
dc.identifier.doi10.3109/19396368.2013.769028en_US
dc.identifier.issn1939-6368
dc.identifier.urihttp://hdl.handle.net/11693/20865
dc.language.isoEnglishen_US
dc.publisherTaylor & Francisen_US
dc.relation.isversionofhttp://dx.doi.org/10.3109/19396368.2013.769028en_US
dc.source.titleSystems Biology in Reproductive Medicineen_US
dc.subjectHDX geneen_US
dc.subjectPremature ovarian failureen_US
dc.subjectX chromosome inactivationen_US
dc.subjectX autosome translocationen_US
dc.titleDisruption of HDX gene in premature ovarian failureen_US
dc.typeArticleen_US
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