Geckinli B B, Toksoy G, Sayar C, Soylemez M A, Yesil G, Aydın H, Karaman A, Devranoglu B
Genetics Department, Zeynep Kamil Women's and Children's Research and Training Hospital, Istanbul, Turkey.
Genetics Department, Istanbul University, Istanbul Medical School, Istanbul, Turkey.
Eur J Obstet Gynecol Reprod Biol. 2014 Nov;182:211-5. doi: 10.1016/j.ejogrb.2014.09.033. Epub 2014 Sep 28.
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 karyotype 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 karyotype (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).
我们的目的是确定175名患有原发性闭经（PA）或卵巢早衰（POI）的土耳其女性的细胞遗传学异常分布情况。我们在土耳其伊斯坦布尔的泽伊内普·卡米尔妇女儿童医院遗传学部门，对94例原发性闭经患者和81例卵巢早衰患者的病历进行了回顾性研究。制备并分析了G显带中期核型。175例中有44例（25%）存在染色体异常。15例为完全型或嵌合型X染色体数目异常（8.5%），10例为完全型或嵌合型X染色体结构异常（5.7%），1例为X-常染色体易位（0.5%），3例为常染色体异常（1.7%），12例为XY核型（6.8%），1例为45,X/46,XY嵌合体，2例为完全型或嵌合型Y染色体结构异常（1.7%）。在这一大组患有原发性闭经或卵巢早衰的土耳其女性中，染色体异常的患病率为25%，大多数病例涉及X染色体非整倍体、X染色体结构异常或46,XY核型。染色体异常的高患病率与早发性卵巢早衰（平均年龄：26岁）相关。
