Prevalence of X aneuploidies X structural abnormalities and 46 XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency
AuthorGEÇKİNLİ, BİLGEN BİLGE
SÖYLEMEZ, MEHMET ALİ
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Our objective was to identify the distribution of cytogenetic abnormalities of 175 Turkish women with primary amenorrhea (PA) or premature ovarian insufficiency (POI). A retrospective study was performed using medical records of 94 patients with PA and 81 patients with POI at the Genetics Department, Zeynep Kamil Women-s and Children-s Research and Training Hospital, Istanbul, Turkey. G-banded metaphase kaiyotype analysis were prepared and analyzed. Chromosomal abnormalities were present in 44 of 175 cases (25%). 15 were full blown or mosaic numerical X chromosome abnormalities (8.5%), 10 were full blown or mosaic X-chromosome structural anomalies (5.7%), one was X-autosome translocation (0.5%), 3 were autosomal anomalies (1.7%), 12 were XY kaiyotype (6.8%), one was 45,X/46,XY mosaic and 2 were full blown or mosaic structural anomalies of Y chromosome (1.7%). The prevalence of chromosomal abnormalities was 25% in this large series of Turkish women with primary amenorrhea or premature ovarian insufficiency, most cases involving X-aneuploidy or X-structural abnormalities or 46,XY karyotype. High prevalence of chromosomal abnormalities is associated with POI starting at an early age (average age: 26 years). (C) 2014 Elsevier Ireland Ltd. All rights reserved.
GEÇKİNLİ B. B. , TOKSOY G., SAYAR C., SÖYLEMEZ M. A. , YEŞİL G., AYDIN H., KARAMAN A., DEVRANOĞLU B., -Prevalence of X aneuploidies X structural abnormalities and 46 XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency-, European Journal Of Obstetrics & Gynecology And Reproductive Biology, cilt.182, ss.211-215, 2014