3830例遗传咨询者外周血染色体核型分析

Analysis of Chromosomal Karyotypes in Peripheral Blood of 3830 Genetic Counselors

目的探讨遗传咨询门诊患者外周血染色体异常核型的类型和发生率以及临床效应。方法回顾分析2016年1月—2018年12月期间3830例因精神发育迟缓、先天畸形、不孕不育等原因就诊于莆田学院附属医院遗传咨询门诊的患者,进行外周血染色体核型分析,并统计异常核型的类型及发生率。结果共检出321例异常核型,检出率8.4%,其中染色体数目异常75例(23.4%),染色体结构异常81例(25.2%),染色体多态性变异165例(51.4%)。结论染色体核型异常与新生儿先天畸形、儿童精神运动发育迟缓有密切关系,也是成人不孕不育及不良孕产史的重要影响因素,对这类患者行染色体核型分析具有重要临床意义。

Objective To investigate the type,incidence and clinical effects of abnormal karyotypes in peripheral blood of genetic counseling patients.Methods A retrospective analysis of 3830 patients who were admitted to the genetic counseling clinic of the Affiliated Hospital of Putian University from January 2016 to December 2018 due to mental retardation,congenital malformations,infertility,etc.Statistics of the types and incidence of abnormal karyotypes.Results A total of 321 abnormal karyotypes were detected,with a detection rate of 8.4%.Among them,75(23.4%)of chromosome abnormalities,81(25.2%)of chromosome structure abnormalities,and 165(51.4%)of chromosome polymorphism were detected.Conclusion The abnormal chromosomal karyotype is closely related to neonatal congenital malformations and childhood psychomotor developmental delay.It is also an important factor influencing the history of adult infertility and poor pregnancy.The karyotype analysis of such patients has important clinical significance.