Venkateshwari Ananthapur, Srilekha Avvari, Veena Koka, Sujatha Madireddy, Jyothy Akka
- Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
J Reprod Infertil. 2015 Jul-Sep;16(3):171-3.
Translocations involving X chromosome and an autosome are rather rare due to associated infertility in men and subfertility in women. X chromosome translocations are frequently associated with primary or secondary amenorrhea. In this report, a case of primary amenorrhea with a de novo balanced reciprocal translocation was presented between chromosomes X and 1.
A 24 year-old proposita with the complaint of primary amenorrhea was found to have hypoplastic uterus and streak gonads with a normal hormonal profile. Chromosomal analysis of the proband revealed a de novo translocation of 46, X, t(X; 1) (q21; p32) chromosomal constitution. Parental karyotypes of the proband showed normal karyotype.
The observed translocation between chromosome X and 1 in the patient suggest either the disruption of a critical gene expression due to position effect or deletion of one or more essential genes in the disrupted long arm of the affected X chromosome. To the best of our knowledge, this is the first report from our ethnic group.
由于男性相关不育和女性生育力低下，涉及X染色体和常染色体的易位相当罕见。X染色体易位常与原发性或继发性闭经相关。在本报告中，呈现了一例X染色体与1号染色体之间发生新发平衡相互易位的原发性闭经病例。
一名24岁主诉原发性闭经的先证者被发现子宫发育不全和条索状性腺，激素水平正常。对先证者的染色体分析显示其染色体组成为46, X, t(X; 1) (q21; p32)的新发易位。先证者父母的核型显示正常核型。
患者中观察到的X染色体与1号染色体之间的易位表明，可能是由于位置效应导致关键基因表达中断，或者是受影响的X染色体长臂中一个或多个必需基因缺失。据我们所知，这是我们族群的首例报告。
