摘要
目的通过染色体核型分析,了解各类遗传咨询者中染色体异常的类型和发生频率。方法采用外周血培养常规技术,并结合多种显带方法对核型异常者进行分析。结果2 885例遗传咨询者中,染色体核型异常者144例,检出率4.99%;随体区及异染色质区段变异45例(1.56%)。结论在妇幼保健医院开展染色体检查十分必要,对于明确病因、诊断及鉴别诊断具有重要意义。随体区变异、异染色质区段变异的临床意义不容忽视。
Objective To analyse the type and incidence of chromosomal kbnormalies among genetic counselees and the chromosomal daryotype applying in genetic counsel. Methods Routine culture for the peripheral blood lymphocytes of 2885 genetic counselees were made and bands karyotype were analysed. Results The overall incidence of chromosomal abnormality was 4. 99% （ 144/2885 ）. 45 cases 1.56% were found. Conclusions It＇s necessary to examine the chromosome in fundamental hospital and importance for the diagnosis, treatment as well as prognosis.
出处
《职业卫生与病伤》
2007年第3期192-194,共3页
Occupational Health and Damage
关键词
遗传咨询
细胞遗传学
染色体
Genetic counselees
Cytogenetics
Chromosomal
