778例遗传咨询者外周血染色体检测结果及临床表现分析  

Analysis of chromosome test results in peripheral blood and clinical manifestations of 778 cases of genetic counseling

作　　者：沈雪 谷明鑫 梅德华 SHEN Xue;GU Mingxin;MEI Dehua(MCH Hospital of Pingdingshan City,Pingdingshan 467000 Henan,China)

机构地区：[1]河南省平顶山市妇幼保健院,河南平顶山467000

出　　处：《中国民康医学》2020年第20期98-100,共3页Medical Journal of Chinese People’s Health

摘　　要：目的:分析778例遗传咨询者外周血染色体检测结果,探讨染色体畸变与临床表现的关系。方法:选取778例遗传咨询者作为研究对象,采集外周血进行外周血染色体检测及核型分析。结果:778例遗传咨询者中染色体畸变91例,畸变率为11.7%,其中染色体数目异常29例,占比31.9%;染色体结构异常62例,占比68.1%;91例异常染色体核型中,69例有临床表现,其中29例为染色体数目异常,40例为染色体结构异常,22例染色体结构异常者目前无临床表现;778例咨询者中,智力低下患者30例,检测出染色体异常23例,占比77.0%;不良孕史患者180例,检测出染色体异常17例,占比9.4%;不良育史患者137例,检测出染色体异常23例,占比16.8%;闭经患者20例,检测出染色体异常3例,占比15.0%;无精症患者25例,检测出染色体异常3例,占比12.0%;优生体检对象386例,检测出染色体异常22例,占比5.7%。结论:778例遗传咨询者外周血检测染色体畸变类型各异,且染色体异常是导致新生儿智力发育低下、不孕不育、两性畸形、闭经的原因之一,外周血染色体检测可为遗传咨询者提供优生优育重要依据。Objective:To analyze chromosome test results in peripheral blood of 778 cases of genetic counseling,and to explore relationship between chromosomal aberrations and clinical manifestations.Methods:778 cases of genetic counseling were selected as the research objects,and the peripheral blood was collected for chromosome test and karyotype analysis.Results:Among the 778 cases of genetic counseling,91 had chromosomal aberrations with an aberration rate of 11.7%.Among them,29 had abnormal chromosome numbers,accounting for 31.9%;and 62 had abnormal chromosome structure,accounting for 68.1%.Among the 91 cases of abnormal chromosomal karyotype,69 cases had clinical manifestations,and 22 cases of abnormal chromosomal structure had no clinical manifestations.Conclusions:778 cases of genetic counseling have different types of chromosomal aberrations in their peripheral blood,and chromosomal abnormalities are one of the reasons that lead to mental retardation,infertility,hermaphroditism,and amenorrhea.Therefore,the peripheral blood chromosome testing can provide important basis for prepotency for genetic counselors.

关 键 词：遗传咨询 染色体 核型异常 临床表现 优生优育 

分 类 号：R394.2[医药卫生—医学遗传学]