Human Genetics & Embryology

Alberto Barros

Publications

• Research Article
  Y-Chromosome Detection in Turner Syndrome
  Author(s): Susana Fernandes, Vânia Ventura, Sofia Dória and Alberto BarrosSusana Fernandes, Vânia Ventura, Sofia Dória and Alberto Barros
  
  Turner syndrome is a chromosomal disorder characterized by the presence of a single normal X chromosome in women. Additionally to the X chromosome monosomy, other cell lines can co-exist, containing the Y chromosome or part of it. The presence of Y chromosome in patients with Turner syndrome represents an increased risk (15- 30%) of developing gonadoblastoma. In this study we screened for the absence/presence of four genes mapped on Y chromosome (SRY, TSPY, DDX3Y and HSFY) in 98 female samples obtained from different tissues, namely peripheral blood, amniotic fluid, gonadal tissue and miscarriages samples, previously characterized cytogenetically having at least one cell line with monosomy X or an abnormal X chromosome. We also evaluate the importance of a molecular test for detection of Y chromosome sequences using a combination of conventional cytogenetic methods and DNA analysis. T.. Read More»
  DOI: 10.4172/2161-0436.1000115

  Abstract PDF