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Arquivos Brasileiros de Endocrinologia & Metabologia

On-line version ISSN 1677-9487


BARROS, Beatriz Amstalden et al. The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome. Arq Bras Endocrinol Metab [online]. 2009, vol.53, n.9, pp.1137-1142. ISSN 1677-9487.

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.

Keywords : Turner syndrome; karyotype; cytogenetic techniques; mosaicism; Y chromosome.

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