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

DOI: 10.4067/S0717-75262011000100010

Keywords: turner's syndrome, cytogenetic variation, phenotype, mosaicis.

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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.

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