Pediatr Endocrinol Diabetes Metab 2017;23,1:37-41
Y chromosome in Turner syndrome
Turner syndrome, mosaicism, Y chromosome
Turner syndrome (TS) is an inherited genetic disorder caused by numerical and/or structural chromosome X aberrations occurring at a frequency of 1:1200–1:2500 live-born girls. The most common karyotype is X chromosome monosomy (45,X) (approximately 50–60% of cases). Approximately 5–6% of patients may have abnormal Y chromosome or mosaicism characterized by the coexistence of 45,X cell line with cell line in which all or part of chromosome Y is present. In patients with TS who have all or fragmented genetic material from chromosome Y there is a substantial risk of cancerous lesions in these dysgenetic gonads. This paper stands for the review of the current knowledge on the genetic material of the Y chromosome in TS, especially in view of the risk of developing malignancies such as gonadoblastoma and dysgerminoma.
Article published in polish language