目的探讨三峡库区出生缺陷与染色体核型异常之间的关系。方法采用患儿外周血静脉血染色体培养、G显带分析359例出生缺陷患儿染色体核型。结果发现染色体异常核型42例,异常率11.70%;其中常染色体核型26例,占7.24%,占异常数的61.59%,性染色体异常16例占4.46%,占异常数的39.10%,而常染色体异常以21-三体综合征为主,异常检出率为6.13%,占异常数的52.38%。同时伴有出生智力低下、发育迟缓、生殖器畸形等表现。结论染色体畸变是引起儿童出生缺陷的重要原因之一,为预防出生缺陷,应加强遗传优生、遗传咨询和产前诊断。 Objective To explore the relationship between birth defects and chromosomal abnormalities in the Three Gorges Reservoir Area. Methods Peripheral blood venous blood was collected from children with G-banding to analyze the chromosomal karyotype of 359 children with birth defects. The results showed that there were 42 karyotype abnormalities, the rate of abnormality was 11.70%. Among them, 26 cases were autosomal karyotype accounting for 7.24%, accounting for 61.59% of abnormal number, 16 cases accounting for 4.46% of abnormal chromosomes, accounting for 39.10% of abnormal numbers. An autosomal abnormality with 21-trisomy syndrome-based, the abnormal detection rate was 6.13%, accounting for 52.38% of the anomalous number. At the same time accompanied by mental retardation, stunting, genital malformations and other performance. Conclusion Chromosome aberration is one of the important causes of birth defects in children. To prevent birth defects, genetic predisposition, genetic counseling and prenatal diagnosis should be strengthened.