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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]|
de Mello M.P.
de Carvalho A.B.
de Godoy Assumpcao J.
de Lemos-Marini S.H.L.
|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.|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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