Disruption of HDX gene in premature ovarian failure

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Okten G., Gunes S., Onat O. E. , Tukun A., Ozcelik T., Kocak I.

SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE, vol.59, no.4, pp.218-222, 2013 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 4
  • Publication Date: 2013
  • Doi Number: 10.3109/19396368.2013.769028
  • Title of Journal : SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE
  • Page Numbers: pp.218-222

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).