Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/198575
Type: Artigo de periódico
Title: [the Inclusion Of New Techniques Of Chromosome Analysis Has Improved The Cytogenetic Profile Of Turner Syndrome].
Author: Barros, Beatriz Amstalden
Maciel-Guerra, Andréa Trevas
De Mello, Maricilda Palandi
Coeli, Fernanda Borchers
Carvalho, Annelise Barreto de
Viguetti-Campos, Nilma
Assumpção, Juliana de Godoy
Marques-de-Faria, Antonia Paula
Lemos-Marini, Sofia Helena Valente de
Guerra-Junior, Gil
Abstract: To evaluate the effect of the improvement of chromosome analysis on the cytogenetic findings of Turner syndrome (TS) patients. 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. 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. Improvement of chromosome analysis over the years has modified the cytogenetic profile of TS.
Subject: Adolescent
Chi-square Distribution
Chromosomes, Human, X
Chromosomes, Human, Y
Cytogenetic Analysis
Humans
Karyotyping
Mosaicism
Retrospective Studies
Turner Syndrome
Citation: Arquivos Brasileiros De Endocrinologia E Metabologia. v. 53, n. 9, p. 1137-42, 2009-Dec.
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/20126871
Date Issue: 2009
Appears in Collections:Unicamp - Artigos e Outros Documentos

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