对30例外周血染色体异常核型患者的检测分析  

Analysis On 30 Cases of Abnormal Karyotype in Peripheral Blood

作　　者：邬丽红 刘运华 WU Lihong;LIU Yunhua(Heyuan Maternal and Child Health Care Hospital,Heyuan Guangdong,517000,China)

机构地区：[1]河源市妇幼保健院,广东河源517000

出　　处：《质量安全与检验检测》2021年第3期121-123,共3页QUALITY SAFETY INSPECTION AND TESTING

摘　　要：为了解染色体异常核型与生殖遗传效应的关系,为指导临床干预、优生优育提供客观依据,本文回顾性分析了2016年2月——2019年12月在我院就诊的30例外周血染色体异常核型患者临床资料,所有患者均表现为不同程度的流产、不良孕史、不孕不育、少精弱精等症状,且进行外周血淋巴细胞培养、G显带、核型分析。结果显示,在30例外周血染色体异常核型患者中,染色体结构异常12例(倒位5例,罗伯逊易位3例,平衡易位4例),占比40%,染色体多态性11例,占比36.7%,染色体数目异常7例,占比23.3%。生殖效应表现为流产的有17例,胎停的有5例,不良孕史6例,弱精症2例。由此可见,染色体异常核型与生殖效应密切相关,是导致流产、胎停等不良妊娠结局的重要因素,对高危人群进行外周血染色体检查具有重要的临床意义。To understand the relationship between abnormal karyotype and reproductive genetic effect,and to provide objective basis for clinical intervention and eugenics.The clinical data of 30 patients with abnormal karyotype in peripheral blood from February 2016 to December 2019 in the hospital were retrospectively analyzed.All patients presented with different degrees of abortion,adverse pregnancy history,infertility,oligospermia and asthenospermia and other symptoms,and the peripheral blood lymphocyte culture,G-banding and karyotype analysis were performed.Among the 30 cases of abnormal karyotype,12 cases(5 cases of inversion,3 cases of Robertsonian translocation and 4 cases of balanced translocation)had abnormal chromosome structure,accounting for 40%,11 cases had chromosome polymorphism,accounting for 36.7%and 7 cases had abnormal chromosome number,accounting for 23.3%.There were 17 cases of abortion,5 cases of fetal arrest,6 cases of adverse pregnancy history and 2 cases of asthenospermia.Abnormal karyotype is closely related to reproductive effect,which is an important factor leading to abortion,fetal arrest and other adverse pregnancy outcomes.It has important clinical significance to carry out peripheral blood chromosome examination for high-risk groups.

关 键 词：染色体异常核型 生殖效应 染色体核型分析 

分 类 号：R722[医药卫生—儿科]