Rojek Aleksandra, Kwasiuk Karolina, Obara-Moszyńska Monika, Kolesińska Zofia, Niedziela Marek
Department of Pediatric Endocrinology and Rheumatology, 2nd Chair of Pediatrics, Medical Faculty I, Poznan University of Medical Sciences, Poland.
Student of Biotechnology in Cosmetology, Chair of Biotechnology and Molecular Biology, Faculty of Natural Sciences and Technology, University of Opole.
Pediatr Endocrinol Diabetes Metab. 2017;23(1):37-41. doi: 10.18544/PEDM-23.01.0072.
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.
特纳综合征（TS）是一种遗传性疾病，由X染色体的数目和/或结构畸变引起，在活产女婴中的发生率为1:1200 - 1:2500。最常见的核型是X染色体单体型（45,X）（约占病例的50 - 60%）。约5 - 6%的患者可能有异常的Y染色体或嵌合体，其特征是45,X细胞系与含有全部或部分Y染色体的细胞系共存。在患有TS且具有全部或部分Y染色体遗传物质的患者中，这些发育不全的性腺存在发生癌性病变的重大风险。本文旨在综述目前关于TS中Y染色体遗传物质的知识，特别是考虑到发生性腺母细胞瘤和无性细胞瘤等恶性肿瘤的风险。
