title: [The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome].
abstract: OBJECTIVE
  To evaluate the effect of the improvement of chromosome analysis on the cytogenetic findings of Turner syndrome (TS) patients.
  
  
  METHODS
  Retrospective study of the results of the karyotypes of 260 patients with TS, regarding banding techniques, number of cells analyzed and results of investigation of Y-chromosome sequences. According to karyotype, divided in 45,X; sex chromosome mosaicism without Y; structural aberrations of sex chromosomes with or without mosaicism; sex chromosome mosaicism with Y.
  
  
  RESULTS
  45,X was the most frequent karyotype (108), followed by structural aberrations (88) and mosaics (58 without Y and 6 with Y). Introduction of banding techniques and increase in the number of cells analyzed resulted in progressive decrease of 45,X karyotype and increase of structural aberrations. The study of Y-chromosome sequences was performed in 96 cases of which 10 resulted positive.
  
  
  CONCLUSIONS
  Improvement of chromosome analysis over the years has modified the cytogenetic profile of TS.
authors.affiliation: Departamento de Pediatria, Unidade de Endocrinologia Pediátrica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.
authors.forename: Beatriz Amstalden
authors.initials: BA
authors.lastname: Barros
authors.forename: Andréa Trevas
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: Maricilda Palandi
authors.initials: MP
authors.lastname: De Mello
authors.forename: Fernanda Borchers
authors.initials: FB
authors.lastname: Coeli
authors.forename: Annelise Barreto de
authors.initials: AB
authors.lastname: Carvalho
authors.forename: Nilma
authors.initials: N
authors.lastname: Viguetti-Campos
authors.forename: Juliana de Godoy
authors.initials: Jde G
authors.lastname: Assumpção
authors.forename: Antonia Paula
authors.initials: AP
authors.lastname: Marques-de-Faria
authors.forename: Sofia Helena Valente de
authors.initials: SH
authors.lastname: Lemos-Marini
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Junior
mesh_terms: D000293:Adolescent; D016009:Chi-Square Distribution; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D014424:Turner Syndrome / Q000235:genetics*