Okten, G.Gunes, S.Onat, O. E.Tukun, A.Ozcelik, T.Kocak, I.2016-02-082016-02-0820131939-6368http://hdl.handle.net/11693/20865We 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.EnglishHDX genePremature ovarian failureX chromosome inactivationX autosome translocationArticle10.3109/19396368.2013.769028