高原地区婴幼儿单纯先心病196例染色体情况分析

Analysis on chromosome in 196 cases infants with simple congeital heart disease in plateau area

目的探讨高原地区婴幼儿先天性心脏病的染色体异常和染色体核型情况。方法抽取昆明市儿童医院云南省196例婴幼儿先天性心脏病的外周血,检测其染色体并进行分析。结果 196例婴幼儿单纯先心病患儿未检出异常染色体,核型均为46,XX或XY型。结论先天性心脏病是一种多基因遗传病,是遗传因素与环境因素共同作用的结果。高原地区单纯、非综合征型婴幼儿先心病染色体数目及结构(光镜下)异常检出率极低。

Objective To study the condition of chromosome and karyotypes of infants with congenital heart disease. Methods Extracting the peripheral blood of 196 cases infants with congenital heart disease in platear area, inspection and analysis the condition of chromosome. Results 196 cases infants with congenital heart disease in platear area had not been detected of chromosome aberrations,and theirs karyotping was 46,XX or XY. Conclusion Congenital heart disease is a disease of polygenic inheritance,and is the outcome of combined action of genetic and environmental factors. Chromosome abnormlity（number and struction） detection rate in infants with simple, non syndrome congenital heart disease in plateau area is extremely low.