Disruption of HDX gene in premature ovarian failure

Okten, Gulsen; Güneş, Sezgin; ONAT, ONUR; Tukun, Ajlan; ÖZÇELİK, TAYFUN; Koçak, İdris

doi:10.3109/19396368.2013.769028

Disruption of HDX gene in premature ovarian failure

Okten G., Güneş S., ONAT O. E., Tukun A., ÖZÇELİK T., Koçak İ.

SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE, cilt.59, sa.4, ss.218-222, 2013 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 59 Sayı: 4
Basım Tarihi: 2013
Doi Numarası: 10.3109/19396368.2013.769028
Dergi Adı: SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.218-222
Anahtar Kelimeler: HDX gene, premature ovarian failure, X chromosome inactivation, X;autosome translocation, X-CHROMOSOME, CRITICAL REGION, TRANSLOCATIONS
Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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).