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目的探讨我院遗传咨询者中智力低下患儿染色体分析的特点,阐述遗传咨询和产前诊断的重要性,可以有效预防染色体缺陷的患儿出生。方法对我院696例智力低下患儿进行染色体分析,染色体制备采用淋巴细胞培养,根据G显带,C显带进行细胞遗传学分析。结果 696例智力低下患儿中,异常染色体核型423例,异常率60.78%。在异常核型中,21号染色体异常的有392例,占异常核型的92.67%。结论先天性智力低下的患儿,与染色体核型异常有着密切的关系。因此,产前筛查实验十分必要,对有异常指标的胎儿可利用孕早期绒毛培养及孕中期羊水细胞培养和脐静脉穿刺等方法检测胎儿染色体核型,提高染色体异常的检出率,对做好优生优育有着积极的重要的意义。
Objective To investigate the characteristics of chromosomal analysis in children with mental retardation in genetic counselors of our hospital and to explain the importance of genetic counseling and prenatal diagnosis to prevent the birth of children with chromosomal defects. Methods Chromosome analysis was performed in 696 children with mental retardation in our hospital. Chromosome preparation was performed by lymphocyte culture. Cytogenetic analysis was performed by G-banding and C-banding. Results Among 696 children with mental retardation, 423 cases of abnormal chromosome karyotype were found, the abnormal rate was 60.78%. In the abnormal karyotype, there are 392 cases of chromosomal abnormality on chromosome 21, accounting for 92.67% of abnormal karyotype. Conclusion Children with congenital mental retardation have a close relationship with chromosomal abnormalities. Therefore, the prenatal screening test is very necessary for fetus with abnormal indicators can be used in early pregnancy villus culture and metaphase amniotic fluid cell culture and umbilical vein puncture and other methods to detect fetal karyotype and improve the detection rate of chromosomal abnormalities, to do Good prenatal and postnatal care has a positive and important significance.