Disruption of HDX gene in premature ovarian failure

作者：Okten Gulsen; Gunes Sezgin^*; Onat Onur Emre; Tukun Ajlan; Ozcelik Tayfun; Kocak Idris

来源：Systems Biology in Reproductive Medicine, 2013, 59(4): 218-222.

DOI：10.3109/19396368.2013.769028

• HDX gene
• premature ovarian failure
• X chromosome inactivation
• X
• autosome translocation

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 -%26gt; Xq21::15q11 -%26gt; 15qter; 15pter -%26gt; 15q11::Xq21 -%26gt; Xqter). %26lt;br%26gt;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.

• 出版日期2013-8