A Rare De Novo Balanced X; 1 Translocation in an Indian Female with Primary Amenorrhea

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.