外周血中散发性染色体畸变的细胞遗传学分析

Cytogenetic analysis of sporadic chromosomal aberrations in peripheral blood

目的 对外周血中散发性染色体畸变的类型及其临床表现进行遗传学分析,为临床遗传咨询和生育指导提供实验室依据.方法 回顾性分析2015年1月~2019年11月广西壮族自治区生殖医院的外周血染色体检查标本,并收集散发性染色体畸变患者的相关病历资料,并对畸变类型进行遗传学分析.结果 8367例受检者标本中共检出散发性染色体畸变129例(1.5%),畸变类型以易位为主.其中t(7;14)最为常见(15.5%),共62例(48%)与流产有关.结论 散发性染色体畸变的临床意义不可忽视,在遗传咨询中应建议该类患者再次生育时做产前诊断.

Objective To provide laboratory basis for genetic counseling and reproductive guidance through investigating the types and clinical manifestations of sporadic chromosomal aberrations in peripheral blood.Methods Peripheral blood chromosome examination specimens detected in the Reproductive Hospital of Guangxi Zhuang Autonomous Region from January 2015 to November 2019 were retrospectively analyzed.Relevant medical records and types of aberrations of patients with sporadic chromosomal aberrations were collected for genetic analysis.Results A total of 129 cases(1.5%)of sporadic chromosomal aberrations were detected in the specimens of 8367 subjects,and the type of aberration was mainly translocation.Among them,t(7;14)was the most common(15.5%),and 62 cases(48%)were correlated with abortion.Conclusion The clinical significance of sporadic chromosomal aberrations cannot be ignored.Prenatal diagnosis should be recommended for people with such chromosomal aberration in their reproductive actions.