[Y chromosome in Turner syndrome].

[Y chromosome in Turner syndrome]. Pediatr Endocrinol Diabetes Metab. 2017;23(1):37-41 Authors: Rojek A, Kwasiuk K, Obara-Moszyńska M, Kolesińska Z, Niedziela M Abstract 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. PMID: 29073306 [PubMed - in process]
Source: Pediatric Endocrinology, Diabetes, and Metabolism - Category: Endocrinology Authors: Tags: Pediatr Endocrinol Diabetes Metab Source Type: research