泸州地区480例遗传咨询者细胞遗传学分析

[目的]探讨泸州地区遗传咨询者的染色体异常与疾病的关系。[方法]对480例有智力低下、反复自然流产或死胎、不孕不育、小睾丸、原发或继发闭经的遗传咨询者进行外周血染色体分析。[结果]发现染色体异常核型46例,异常核型检出率为9.58%,包括染色体的数目和结构异常。[结论]对遗传咨询者进行染色体检查,对于预防遗传性疾病,开展优生优育工作以及指导临床诊断与治疗具有十分重要的意义。

THE CYTOGENETICS ANALYSIS OF 480 PEOPLE OF GENETIC COUNSELING IN LUZHOU

[Objective]To study the relationship between abnormal of chromosome of people of genetic counseling and diseases in Luzhou.[Methods]Peripheral lymphocytes were detected by cytogenetics methods for 480 genetic counseling patients with mental retardation,recurrent spontaneous abortion or fetal death,infertility or sterility micro-testis and primary or secondary amenorrhea.[Results]Abnormal chromosome was found in 46 patients,with the rate of abnormal chromosome of 9.58%,which included the abnormal chromosome number or structure.[Conclusion]To detect the chromosomes of people of genetic counseling is very important to prevent genetic diseases,develop prenatal and postnatal care and direct clinical diagnosis and treatment.