Disruption of HDX gene in premature ovarian failure
Author
Okten, G.
Gunes, S.
Onat, O. E.
Tukun, A.
Ozcelik, T.
Kocak, I.
Date
2013Source Title
Systems Biology in Reproductive Medicine
Print ISSN
1939-6368
Publisher
Taylor & Francis
Volume
59
Issue
4
Pages
218 - 222
Language
English
Type
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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. © 2013 Informa Healthcare USA, Inc.