摘要
目的通过对本地区818例外周血染色体的遗传学结果总结分析,为我院住院及门诊患者提供临床咨询及处理提供相关参考。方法采用我院遗传室的外周血淋巴细胞培养技术、G显带、行染色体核型分析。结果 818例患者遗传咨询中检查出染色体异常84例,染色体多态性变异138例,异常检出率为10.26%(84/818)。染色体数目异常70例、平衡易位7例、缺失2例、der 3例、环状染色体2例、多态性138例。结论染色体核型异常时导致流产、原发闭经、智力低下及发育异常的重要原因之一,对临床诊断及优生具有重要意义。
Objective：Through the region of 818 cases with peripheral blood chromosome genetic results summary analysis,to provide the hospital inpatient and outpatient clinical consultation and treatment to provide relevant reference. Methods：Using the peripheral lymphocyte culture techniques,genetic room in our G banding karyotype analysis. Results：818 cases of patients with genetic counseling inspection of chromosome abnormality in 84 cases,138 cases of chromosome polymorphism variation,anomaly detection rate was 10.26%（84/818）. Chromosome number abnormality of 70 cases,loss of balance translocation in 7 cases,2 cases,der 3 cases,circular chromosome 2 cases,polymorphism in 138 cases. Conclusion：Abnormal karyotype in miscarriages,primary amenorrhea,intellect,and one of the important reasons of dysplasia,is of great significance for clinical diagnosis and Health birth.
出处
《中国优生与遗传杂志》
2015年第7期43-45,共3页
Chinese Journal of Birth Health & Heredity
关键词
染色体异常
染色体多态性
遗传咨询
Chromosomal abnormalities
Chromosome polymorphism
Genetic counseling
