Vasu Vidya Rendheer, Chandra Nallathambi, Santhiya Sathiyavedu Thyagarajan
Department of Genetics, Dr. A.L.M. P.G. Institute of Basic Medical Sciences, University of Madras, Chennai, India.
Genet Test Mol Biomarkers. 2009 Aug;13(4):533-6. doi: 10.1089/gtmb.2009.0051.
Translocations involving X chromosome and an autosome are rather rare due to the associated infertility in men and subfertility in women. X-autosome translocations are frequently associated with primary or secondary ovarian failure and at times Turner syndrome-like features if there is an involvement of the critical region of Xq13-q26. A 19-year-old proposita with a complaint of amenorrhea was found to have hypoplastic uterus and streak ovaries. Hormonal profile revealed hypergonadotropic hypogonadism. Chromosomal analysis of 25 conventionally stained metaphases revealed the karyotype to be 46,X,t(X;7)(q13;p15)de novo. This rare finding is the first report from India, to the best of our knowledge. She also exhibited the maternally inherited heteromorphic variant of chromosome 21. The occurrence of t(X;7) in the proposita with hypergonadotropic amenorrhea confirms the role of X-autosome translocations in ovarian dysfunction.
由于男性相关的不育症和女性的生育力低下，涉及X染色体和常染色体的易位相当罕见。X-常染色体易位常与原发性或继发性卵巢功能衰竭相关，并且如果Xq13-q26关键区域受累，有时会出现特纳综合征样特征。一名19岁主诉闭经的女性患者被发现子宫发育不全和条索状卵巢。激素水平显示高促性腺激素性性腺功能减退。对25个常规染色中期细胞进行染色体分析，结果显示核型为46,X,t(X;7)(q13;p15)，属新发突变。据我们所知，这一罕见发现是来自印度的首例报告。她还表现出母系遗传的21号染色体异形变体。该患有高促性腺激素性闭经的女性患者出现t(X;7)，证实了X-常染色体易位在卵巢功能障碍中的作用。
