三峡库区359例出生缺陷患儿的染色体核型分析

359 cases of the Three Gorges reservoir area in children with birth defects Karyotype analysis

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 study the Three Gorges reservoir area of birth defects and abnormal karyotype relationship. Methods： Cultivate inchildren with peripheral venous blood chromosome, G - banding analysis of 359 cases of children with birth defects karyotype. Results： Chromosomal abnormalities found 42 cases of nuclear type, bit rate of 11.70% abnormal; often one of 26 cases of karyotype, or 7.24 percent, accounting for 61.59 percent the number of anomalies, 16 cases of sex chromosome abnormalities accounted for 4. 46%, accounting for 39. 10 percent the number of abnormal, autosomal abnormalities in the trisomy 21 syndrome based anomaly detection rate of 6. 13 percent, accounting for 52. 38% of abnormalities. At the same time, was born with mental retardation, growth retardation, genital abnormalities, such as performance. Conclusions： Chromosomal aberrations conclusions birth defects in children are one of the important reasons, for the prevention of birth defects, should be strengthened genetic eugenics, gerietic counseling and prenatal diagnosis.