[染色体分析新技术的纳入改善了特纳综合征的细胞遗传学特征]
[The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome].
作者信息
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
机构信息
Departamento de Pediatria, Unidade de Endocrinologia Pediátrica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.
出版信息
Arq Bras Endocrinol Metabol. 2009 Dec;53(9):1137-42. doi: 10.1590/s0004-27302009000900010.
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.
目的
评估染色体分析技术改进对特纳综合征（TS）患者细胞遗传学检查结果的影响。
方法
回顾性研究260例TS患者的核型结果，涉及显带技术、分析的细胞数量以及Y染色体序列检测结果。根据核型分为45,X；无Y的性染色体嵌合体；有或无嵌合体的性染色体结构畸变；有Y的性染色体嵌合体。
结果
45,X是最常见的核型（108例），其次是结构畸变（88例）和嵌合体（无Y的58例，有Y的6例）。显带技术的引入和分析细胞数量的增加导致45,X核型逐渐减少，结构畸变增加。对96例患者进行了Y染色体序列检测，其中10例呈阳性。
结论
多年来染色体分析技术的改进改变了TS的细胞遗传学特征。
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