Two turner syndrome patients with the mosaic 45,X/46,X,i(Xq) karyotype:: Case report

Turner's syndrome is one of the most common chromosomal aneuploidy disorders. Turner's syndrome occurs in 1 in 4000 live-born girls and approximately 5 to 10 percent of them have mosaic isochromosome 45,X/46,X,i(Xq). Turner's syndrome is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. In this study, we presented 18 year-old two girls having complaints of primary amenorrhea with mosaic 46,X,i(X)(qter -> q10::q10 -> qter) karyotypes. In the mosaic Turner's syndrome, clinical table was slighter than classic Turner's syndrome as in our cases.