湖州地区遗传咨询儿童染色体异常核型及临床分析

Children′s chromosome with abnormal karyotypes and clinical analysis in Huzhou city

目的通过探讨我院遗传咨询儿童染色体异常核型特点,为降低本地区染色体病患儿的出生率、提高出生人口素质提供科学依据。方法对临床表现为智能低下、生长发育迟缓、先天畸形、特殊表型等儿童进行外周血染色体核型分析。结果发现染色体异常核型93例,异常检出率为38.43%;其中常染色体异常核型80例,占总检查数的33.06%,占异常数的86.02%,性染色体异常核型13例,占总检查数的5.37%,占异常数的13.98%。结论染色体异常是导致儿童智能低下、生长发育迟缓、先天畸形、甚至死亡的重要病因之一,加强孕期健康教育和遗传咨询,进一步加大产前筛查及产前诊断力度,不断提高染色体病的诊断准确率,是降低染色体病儿出生率、提高出生人口素质的有效手段。

Objective： Through the study of genetic counseling children＇s chromosome with abnormal karyotypes characteristics, in order to provide a scientific basis for reducing the birth rate of children with chromosome disease of the region and improving population quality. Method： To analyze the chromosome karyotype of peripheral blood of the children who have the clinical manifestations of men- tal retardation, growth retardation, congenital malformation. Result： 93 cases were found abnormal chromosome karyotype, abnormal detection rate 38.43% ; 80 cases were autosomal abnormal karyotype, accounting for the total number of checks of 33.06% , account- ing for abnormal number of 86. 02% , 13 cases were abnormal of the sex chromosome karyotype, accounting for the total number of checks of 5.37% , accounting for the number of abnormal of 13.98%. Conclusion： Chromosomal abnormalities is one important cause leading to children＇s mental retardation, growth retardation, congenital malformations, or even death, strengthen health education and genetic counseling during pregnancy, further increase the intensity of prenatal screening and prenatal diagnosis, and continuously im- prove the diagnostic accuracy of chromosomal diseases, is an effective means to reduce the birth rate of chromosomal sick children and improve the quality of birth.