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Updated: May 13, 2026

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
Disruption of HDX gene in premature ovarian failure
Gülsen Okten1, Sezgin Gunes, Onur Emre Onat
1Faculty of Medicine, Department of Medical Biology, Ondokuz Mayis University, Samsun, Turkey. sgunes@omu.edu.t
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.
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