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      • Department of Molecular Biology and Genetics
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      Disruption of HDX gene in premature ovarian failure

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      Author
      Okten, G.
      Gunes, S.
      Onat, O. E.
      Tukun, A.
      Ozcelik, T.
      Kocak, I.
      Date
      2013
      Source Title
      Systems Biology in Reproductive Medicine
      Print ISSN
      1939-6368
      Publisher
      Taylor & Francis
      Volume
      59
      Issue
      4
      Pages
      218 - 222
      Language
      English
      Type
      Article
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      Abstract
      We 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.
      Keywords
      HDX gene
      Premature ovarian failure
      X chromosome inactivation
      X autosome translocation
      Permalink
      http://hdl.handle.net/11693/20865
      Published Version (Please cite this version)
      http://dx.doi.org/10.3109/19396368.2013.769028
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