title: Disruption of HDX gene in premature ovarian failure.
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.
authors: Faculty of Medicine, Department of Medical Biology, Ondokuz Mayis University, Samsun, Turkey. sgunes@omu.edu.t
authors: Gülsen
authors: G
authors: Okten
authors: Sezgin
authors: S
authors: Gunes
authors: Onur Emre
authors: OE
authors: Onat
authors: Ajlan
authors: A
authors: Tukun
authors: Tayfun
authors: T
authors: Ozcelik
authors: Idris
authors: I
authors: Kocak
mesh_terms: D000293:Adolescent; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D041321:Chromosomes, Human, X; D005260:Female; D005801:Genes, Homeobox / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D014178:Translocation, Genetic; D049951:X Chromosome Inactivation; D055815:Young Adult