58例先天愚型患儿的发病因素与染色体分析

Analysis of clinic etiology and chromosome in 58 cases of Down's syndrome

[目的 ]探讨先天愚型的发病因素与染色体核型 .[方法 ]采用先天愚型患儿的外周血及脐带血进行淋巴细胞培养、染色体制片、G显带处理、核型分析 .[结果和结论 ]5 8例先天愚型患儿染色体核型分为单纯 2 1三体型 4 8例 ( 83 % ) ,易位型 3例 ( 5 % ) ,嵌合体型 7例 ( 12 % ) ;患儿发生率在第一胎中最高 ,为 60 % ;母龄大于 3 5岁以上的患儿 11例 ( 18% ) ,母龄 3 4岁以下中居 2 0～ 2 9岁者占多数 ( 70 % ) .

OBJECTIVE?To study the relationship between clinic etiology of the Down's syndrome and chromosomes.?METHODS?The lymphocytes were cultured by using the peripheral and umbilical blood of infants, chromosomes were produced and chromosome's G banding was disposed and the types of chromosome were analyzed.?RESULTS AND CONCLUSION?The types of chromosome in patients were divided into 48 cases (83%) of trisomy 21, 3 cases (5%) of translocation and 7 cases (12%) of mosaic. The highest incidence was in the first born infants (60%), 11 cases (18%) were born in the over 35 ages of mothers, and the most cases were born in 20～29 ages (70%) of mothers.