SÍNDROME DE TURNER CON MOSAICISMO 45X/46XY: REPORTE DE CASO

Abstract

Turner syndrome has an estimated prevalence of 1 in 1800 to 5000 female births and is characterized by total or partial absence of the second chromosome X. It's now recognized that there is variation in the cyto-genetic presentaron of the syndrome, being the most common monosomy X (45, X) and among the least frequent it's found mosaicism including fragments or the entire Y chromosome. The presence of Y chromosome confers phenotypic characteristics of androgenization and requires extensión studies in patients. We report a case of Turner syndrome with mosaic 45,X/46,XY karyotype found by G-banding and aditionally, we propose a protocol for further studies and management of patients with this syndrome.