西安地区638例遗传咨询儿童细胞遗传学分析

Cytogenetic analysis of 638 cases of genetic counseling children in XIan district

目的通过分析我院遗传咨询患儿染色体异常核型类别及发生率,探讨染色体异常与疾病的关系。方法采用常规外周血淋巴细胞培养及染色体制备,G显带,核型分析。结果 638例遗传咨询患儿中,检出异常核型156例,异常检出率为24.45%。其中染色体数目异常118例,占异常核型的75.64%,染色体结构异常26例,占异常核型的16.67%,染色体多态性变异12例,占异常核型的7.69%。结论染色体异常是导致儿童智力低下,先天性畸形,身材矮小重要的原因之一,应引起临床医生重视,不断提高染色体疾病的诊断准确率。

Objective:To discuss the relationship between chromosome abnormality and disease through having analysis of the incidence of abnormal karyotype of our hospital genetic counseling children.Methods:Chromosome samples were cultured through conventional peripheral blood lymphocyte and chromosome kartotypes were prepared,analyze the karyotype using G-banding under the microscope.Results:156 cases of abnormal karyotypes were detected in 638 cases of genetic counseling children;its detection rate was 24.45%.118 cases of numerical chromosomal aberrations,26 cases of structural chromosomal aberrations,and 12 cases of chromosomal polymorphism accounting for 75.64%,16.67%and 7.69%in abnormal karyotype respectively.Conclusion:Chromosomal abnormality is a major cause of mental retardation,sexual development abnormalities and short stature.This should be highly emphasized by the clinicians;the diagnostic accuracy of chromosomal diseases should be improved continuously.