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目的研究遗传咨询者染色体多态性与临床效应之间的关系。方法将1500例遗传咨询者为研究对象、采用常规方法进行外周血染色体的培养和制备,核型分析法采用G、C显带法.针对咨询者的具体情况进行AZF区微缺失检测.观察分析染色体多态性与临床效应的关系。结果检出染色体多态者110例,其中9号染色体臂间倒位32例.小Y 35例,大Y8例,D、G组短臂增长30例,1号和9号以及16号染色体次缢痕增长5例。结论染色体多态与临床效应具有一定的对应关系,可造成不孕不育和流产以及死胎等生殖异常,在孕前进行遗传咨询对优生优育具有重要的意义。
Objective To study the relationship between genetic counseling chromosome polymorphism and clinical effect. Methods One hundred and fifty-five cases of genetic counselors were enrolled in this study. The peripheral blood chromosomes were cultured and prepared by routine methods. The karyotype analysis method was G-banding and C-banding, and AZF microdeletions were detected according to the specific conditions of consultants. Relationship between Chromosome Polymorphism and Clinical Effect. Results Chromosome polymorphism was detected in 110 cases, of which 32 cases were inverted in the arm of chromosome 9. There were 35 cases of small Y, 8 cases of large Y, 30 cases of short arm in groups D and G, 1 and 9 and 16 chromosomes Markings increase in 5 cases. Conclusion Chromosome polymorphism and clinical effects have a certain corresponding relationship, can cause infertility and miscarriage and stillbirth and other reproductive abnormalities, genetic counseling before pregnancy is of great significance to prenatal and postnatal care.