Disruption of HDX gene in premature ovarian failure

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 (SCI-Expanded, Scopus) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 4
  • Publication Date: 2013
  • Doi Number: 10.3109/19396368.2013.769028
  • Journal Name: SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.218-222
  • Keywords: HDX gene, premature ovarian failure, X chromosome inactivation, X;autosome translocation, X-CHROMOSOME, CRITICAL REGION, TRANSLOCATIONS
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

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).