Y chromosome in female patients with a clinical diagnosis of Turner syndrome: literature review and researchers’ own monitoring

Abstract

Turner syndrome (TS) is the most common genetic disorder associated with X chromosome abnormality. Total absence of one of the X chromosomes in all cells occurs in 40—50 % of cases. In 5 % of female patients with TS there is, along with cells without genetic material of X chromosome, a cell line with 46,XY karyotype or only a part of Y chromosome, which might manifest clinically as virilization and mixed gonadal dysgenesis. Early identification of genetic material of Y chromosome in female patients with TS is of great clinical importance due to higher risk of germ cell tumors.Presented in the article are data of researchers’ own monitoring of a girl with TS with rare karyotype containing genetic material of Y chromosome.