title: Identification of Y-Chromosome Sequences in Turner Syndrome.
abstract: OBJECTIVE
  To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome.
  
  
  METHODS
  The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences DYZ1, DYZ3, ZFY and SRY were amplified by Polymerase Chain Reaction.
  
  
  RESULTS
  The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis.
  
  
  CONCLUSIONS
  The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.
authors.affiliation: Disciplina de Genética, ICBN, Universidade Federal do Triângulo Mineiro/UFTM, Uberaba, MG, Brazil.
authors.forename: Roseane Lopes da
authors.initials: RL
authors.lastname: Silva-Grecco
authors.affiliation: Disciplina de Genética, ICBN, Universidade Federal do Triângulo Mineiro/UFTM, Uberaba, MG, Brazil.
authors.forename: Alessandra Bernadete
authors.initials: AB
authors.lastname: Trovó-Marqui
authors.affiliation: Disciplina de Genética, ICBN, Universidade Federal do Triângulo Mineiro/UFTM, Uberaba, MG, Brazil.
authors.forename: Tiago Alves de
authors.initials: TA
authors.lastname: Sousa
authors.affiliation: Disciplina de Genética, ICBN, Universidade Federal do Triângulo Mineiro/UFTM, Uberaba, MG, Brazil.
authors.forename: Lilian Da
authors.initials: LD
authors.lastname: Croce
authors.affiliation: Disciplina de Genética, ICBN, Universidade Federal do Triângulo Mineiro/UFTM, Uberaba, MG, Brazil. balarin@mednet.com.br.|Instituto de Ciências Biológicas e Naturais/ICBN, Disciplina de Genética, Universidade Federal do Triângulo Mineiro/UFTM, Praça Manoel Terra, 330, Uberaba, MG, CEP 38015-050, Brazil. balarin@mednet.com.br.
authors.forename: Marly Aparecida Spadotto
authors.initials: MA
authors.lastname: Balarin
mesh_terms: D000293:Adolescent; D001938:Brazil / Q000453:epidemiology; D002648:Child; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods; D009030:Mosaicism; D017421:Sequence Analysis / Q000379:methods; D014424:Turner Syndrome / Q000453:epidemiology / Q000235:genetics
keywords: Gonadoblastoma; Polymerase chain reaction; Turner syndrome; Y-chromosome