广州地区3255例遗传咨询者外周血染色体核型分析  

Chromosome karyotype analysis of peripheral blood of 3255 genetic counselors in Guangzhou area

作　　者：刘建珍[1] 陈鸿桢 林铿[1] LIU Jianzhen;CHEN Hongzhen;LIN Keng(Huadu Maternity and Child Healthcare Hospital,Guangdong Guangzhou 510800)

机构地区：[1]广州市花都区妇幼保健院检验科,广东广州510800

出　　处：《医学检验与临床》2023年第3期41-45,共5页Medical Laboratory Science and Clinics

摘　　要：目的:探讨染色体异常核型及多态性在各个临床指征下发生的频率、类型及其之间的关系。方法:对3255例因不同临床指征就诊的患者外周血淋巴细胞进行培养、制片及G显带后行核型分析。结果:共检出异常染色体核型151例(4.64%),多态性218例(6.70%)。其中不孕不育者核型异常检出率2.71%,多态性检出率5.62%;不良孕产史者异常核型检出率2.48%,多态性检出率6.81%;生长发育异常者异常核型检出率13.32%,多态性检出率5.42%;胎儿染色体异常者异常核型检出率19.78%,多态性检出率32.97%;体查者异常核型检出率4.76%,多态性检出率3.17%。结论:染色体异常及异常的类型在不同临床指征发生率不同。遗传咨询时应重视对不孕不育、不良孕产史、生长发育异常和胎儿染色体异常等咨询者的染色体核型分析。Objective:To explore the frequency,type and relationship of chromosomal abnormal karyotype and polymorphism under various clinical indications.Methods:The peripheral blood lymphocytes of 3255 patients with different clinical indications were cultured,dissected and G-banded for karyotype analysis.Results:151 cases(4.64%)of abnormal karyotype and 218 cases(6.70%)of polymorphism were detected.The detection rate of abnormal karyotype and polymorphism were 2.71%and 5.62%in infertile patients.The detection rate of abnormal karyotype and polymorphism was 2.48%and 6.81%in those with adverse pregnancy history.The detection rate of abnormal karyotype and polymorphism were 13.32%and 5.42%in abnormal growth and development.The detection rate of abnormal karyotype and polymorphism were 19.78%and 32.97%in fetal chromosomal abnormalities.The detection rate of abnormal karyotype and polymorphism were 4.76%and 3.17%respectively.Conclusion:The incidence of chromosomal abnormalities is different in different clinical indications.Attention should be paid to the chromosome karyotype analysis of the consulters of infertility,adverse pregnancy history,abnormal growth and development and fetal chromosomal abnormalities.

关 键 词：染色体 异常核型 多态性 临床指征 

分 类 号：R394[医药卫生—医学遗传学] R446[医药卫生—基础医学]