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目的分析外周血染色体核型,了解淄博地区异常核型出现的频率、类型与疾病发生的关系。方法采用外周血染色体培养技术,行常规G显带核型分析。结果染色体数目与结构异常者199例,异常率为9.59%,其中21三体79例(占39.70%),性染色体异常45例(占22.61%),平衡易位17例(占8.33%),9号染色体臂间倒位15例(占7.65%),Y染色体多态9例(占7.65%)。结论染色体异常是导致不良孕产史(反复流产、分娩畸形)、不孕症、智力低下等的重要原因之一,有必要对患者进行染色体检查,为优生优育和产前诊断提供依据。
Objective To analyze the karyotypes of peripheral blood and to understand the frequency and types of abnormal karyotypes in Zibo area and the relationship between them. Methods Chromosome culture using peripheral blood, conventional G - banding karyotype analysis. Results There were 199 cases with abnormal chromosome number and structure. The abnormality rate was 9.59%, of which 79 cases (39.70%) were 21 trisomy, 45 cases (22.61%) had sex chromosome abnormality, 17 cases (8.33%) had balanced translocation, There were 15 (7.65%) inversions on the 9th chromosome, and 9 cases (7.65%) of Y chromosome polymorphisms. Conclusion Chromosomal abnormalities are one of the important causes of adverse maternal history (recurrent miscarriage and childbirth malformation), infertility and mental retardation. It is necessary to carry out chromosomal examination in order to provide basis for prenatal and prenatal diagnosis.