%0 Journal Article %A A Venkateshwari %A A Srilekha %A K Veena %A M Sujatha %A A Jyothy %B Journal of Reproduction & Infertility %C Tehran, Iran %D 2015 %T A Rare De Novo Balanced X; 1 Translocation in an Indian Female with Primary Amenorrhea %J JRI %> https://www.jri.ir/documents/fullpaper/en/610.pdf %U https://www.jri.ir/article/610 %K %P 171-174 %V 16 %N 3 %G English %I Avicenna Research Institute %( Avicenna Research Institute %@ 2251-676X %X

Background: 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.

Case Presentation: 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.

Conclusion: 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.