常德地区1697例遗传咨询者染色体结果分析

Analysis on chromosome results of 1697 cases for genetic counseling in Changde

目的分析遗传咨询者外周血染色体异常核型不同类型和概率以及咨询指导,探讨细胞遗传学的临床诊断价值。方法外周血培养、收获、制片、G显带染色后镜下核型分析。结果 1697例遗传咨询者中共检出110例异常核型,异常率6.48%;其中常染色体数目异常55例,占3.24%;性染色体数目异常25例,占1.47%;性染色体结构异常4例,占0.23%;平衡型常染色体结构异常18例,占1.06%;非平衡型常染色体结构异常2例,占0.11%;性反转2例,0.11%;嵌合体4例,占0.23%;染色体多态性变异42例,占2.47%。结论染色体核型分析对临床遗传病诊断有重大意义,对咨询者进行检查,对异常者进行治疗指导是预防出生缺陷,提高人口素质的重要防控手段。

Objective： To analyze the different types and probability of peripheral chromosome abnormal karyotype of people for genetic counseling and their consulting guidance, to explore the clinical diagnostic value of cytogenetics. Methods： Peripheral blood was cultivated, harvested and sectioned, and microscopical karyotype analysis of was conducted after G band staining. Results： A total of 110 abnormal karyotypes were detected in 1697 cases of people for genetic counseling, with the abnormal rate for 6.48%; among them, abnormal number of autosome was 55 cases, accounting for 3.24%; while abnormal number of allosome was 25 cases, accounting for 1.47%; abnormal structure of allosome was 4 cases, accounting for 0.23%： the abnormal structure of balance autosome was found in 18 cases, accounting for 1.06%, while the abnormal structure of non-balance autosome in 2 cases, accounting for 0.11%; 2 cases had sexual reversal, accounting for 0.11%, 4 cases were chimera, accounting for 0.23%, while 42 cases were chromosome polymorphism variation, accounting for 2.47%. Conclusions： Karyotype analysis has great significance to the diagnosis of clinical genetic disease. Inspection on people sighting for genetic counseling, and treatment guidance for abnormal people are the important means to prevent birth defects and improve the quality of the population.