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Type: Artigo de periódico
Title: The Inclusion Of New Techniques Of Chromosome Analysis Has Improved The Cytogenetic Profile Of Turner Syndrome [a Inclusão De Novas Técnicas De Análise Citogenética Aperfeiçoou O Diagnóstico Cromossômico Da Síndrome De Turner]
Author: Barros B.A.
Maciel-Guerra A.T.
de Mello M.P.
Coeli F.B.
de Carvalho A.B.
Viguetti-Campos N.
de Godoy Assumpcao J.
Marques-de-Faria A.P.
de Lemos-Marini S.H.L.
Guerra-Junior G.
Abstract: Objective: To evaluate the effect of the improvement of chromosome analysis on the cytoge- netic 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.
Rights: aberto
Identifier DOI: 
Date Issue: 2009
Appears in Collections:Unicamp - Artigos e Outros Documentos

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