宝鸡地区6572例遗传咨询者染色体核型统计及临床表型分析  

Chromosome karyotype statistics and clinical phenotype analysis of 6572 genetic counselors in Baoji area

作　　者：韩凯[1] 杨鹏[1] 唐凯[1] 成艳[1] 张娟玲[1] 杜小云[1] 王兴娟 HAN Kai;YANG Peng;TANG Kai;CHENG Yan;ZHANG Juanling;DU Xiaoyun;WANG Xingjuan(Genetic Eugenics Laboratory,Baoji Maternal and Child Health Hospital,Baoji 721000,China;Reproductive Center,Baoji Maternal and Child Health Hospital,Baoji 721000,China)

机构地区：[1]陕西省宝鸡市妇幼保健院遗传优生实验室,陕西宝鸡721000 [2]陕西省宝鸡市妇幼保健院生殖中心,陕西宝鸡721000

出　　处：《临床医学研究与实践》2023年第14期80-82,132,共4页Clinical Research and Practice

摘　　要：目的探讨宝鸡地区遗传咨询者染色体异常类型的分布特点,为临床提供依据,制定相应的干预措施。方法选取2010—2020年在我院就诊的6572例遗传咨询者,进行染色体G显带核型分析。分析各类染色体异常核型及多态性构成情况。结果共检出875例染色体异常,检出率为13.31%;染色体异常核型406例,检出率为6.18%;染色体多态性469例,检出率为7.14%。结论染色体异常是不孕不育、不良孕产史、智力低下、身材矮小等疾病的重要病因,对重点人群进行遗传分析有助于查明病因、精准诊治、指导生育,避免或减少出生缺陷的发生,同时对提高人口质量、减轻社会和家庭的负担有重要意义。Objective To explore the distribution characteristics of chromosome abnormality types of genetic counselors in Baoji area,provide basis for clinical and formulate corresponding intervention measures.Methods A total of 6572 genetic counselors who visited in our hospital from 2010 to 2020 were selected for chromosome G-banding karyotype analysis.Analysis of various typs of chromosomal abnormalities and polymorphism composition.Results A total of 875 cases of chromosomal abnormalities were detected,and the detection rate was 13.31%.There were 406 cases of chromosome abnormal karyotype,the detection rate was 6.18%.There were 469 cases of chromosome polymorphism,and the detection rate was 7.14%.Conclusion Chromosome abnormality is an important cause of infertility,adverse pregnancy history,mental retardation,short stature and other diseases.Genetic analysis of key populations is helpful to find out the cause,accurate diagnosis and treatment,guide fertility,avoid or reduce the occurrence of birth defects,and is of great significance to improve population quality and reduce the burden of society and family.

关 键 词：染色体核型 染色体多态性 染色体病 唐氏综合征 

分 类 号：R596.1[医药卫生—内科学]