Intergen Genetics Center, Ankara, Turkey.
Int J Gynaecol Obstet. 2010 Aug;110(2):122-4. doi: 10.1016/j.ijgo.2010.03.023. Epub 2010 May 15.
To identify the distribution of cytogenetic abnormalities among Turkish women with premature ovarian failure (POF).
A karyotype analysis was performed at the Medical Genetics Department of Zekai Tahir Burak Women's Hospital, Ankara, Turkey, for 75 women younger than 40years found to have POF over a 5-year period.
There were 18 familial cases (24%), 1 of which involving an abnormality of the X chromosome [46,X,del(X)(q22)]. Sixteen patients (21.3%) had chromosomal abnormalities such as Xq and Xp deletions, translocations, and numerical aberrations; 2 had Swyer syndrome; 2 were fragile X premutation carriers; and 1 had galactosemia.
A genetic cause of POF was identified in 39 (52%) of 75 patients. A thorough genetic evaluation of women with POF should be performed regardless of clinical features suggestive of chromosomal abnormality.
确定土耳其早发性卵巢功能衰竭（POF）女性的细胞遗传学异常分布。
对在土耳其安卡拉 Zekai Tahir Burak 妇女医院医学遗传科就诊的 75 名年龄小于 40 岁的 POF 患者进行核型分析，随访时间为 5 年。
发现 18 例家族性病例（24%），其中 1 例涉及 X 染色体异常[46，X，del（X）（q22）]。16 例患者（21.3%）存在 Xq 和 Xp 缺失、易位和数目异常等染色体异常；2 例为 Swyer 综合征；2 例为脆性 X 前突变携带者；1 例为半乳糖血症。
在 75 例患者中，39 例（52%）确定了 POF 的遗传病因。无论是否存在提示染色体异常的临床特征，都应对 POF 患者进行全面的遗传评估。
