137例生长发育异常儿童的外周血染色体核型分析  

Analysis on peripheral blood chromosome karyotype of 137 children with abnormal growth and development

作　　者：李艳华 辉红蕾 LI Yanhua;HUI Honglei(Department of Clinical Laboratory,Southern Central Hospital of Yunnan Province/First People's Hospital of Honghe Prefecture,Honghe Yunnan 661100,China)

机构地区：[1]云南省滇南中心医院/红河州第一人民医院医学检验科,云南蒙自661100

出　　处：《云南医药》2023年第6期60-62,共3页Medicine and Pharmacy of Yunnan

摘　　要：目的 探讨儿童外周血染色体异常的相关核型特征与临床表现。方法 选取2021年1月-2023年2月在本院进行外周血染色体常规检查及G显带核型分析的137例儿科患者的结果进行分析。结果 137例儿童中,119例(86.86%)G显带染色体组型400条带水平未见明显异常,13例染色体核型异常,异常检出率9.49%;5例(3.65%)染色体正常变异,该5例患者主要临床表现为矮小、男性乳房发育;异常染色体核型主要以染色体数目异常为主,其中以47,XN,+21为主(7例,占53.85%),主要临床表现为语言发育障碍、矮小症;45,X次之(3例,占23.08%),主要临床表现为身材矮小,先天性心脏病;其余为染色体结构异常。结论 染色体核型异常与儿童的生长发育、语言智力发育关系密切,染色体病是导致儿童生长发育迟缓、身材矮小、先天性心脏病的重要病因,外周血染色体核型分析对明确病因及早采取相应的治疗措施有重要意义。染色体病尚无根治方法,临床咨询时应重视生长发育异常儿童的染色体核型分析,重视产前诊断。Objective To investigate the karyotype characteristics and clinical manifestations of chromosome abnormalities in children s peripheral blood.Methods Analyzed the results of 137 pediatric patients who underwent peripheral blood chromosome routine examination and G-banding karyotype in our hospital from January 2021 to February 2023.Results Among 137 children,119(86.86%)had no obvious abnormality in the level 400 bands of G-banding karyotype,and 13 cases had abnormal karyotypes,and the abnormal detection rate was 9.49%.5 ases(3.65%)had normal chromosome variation,which main clinical manifestations were short stature and gynecomastia.The abnormal chromosome karyotype was mainly charaterized by abnormal chromosome number,of which 47,XN,+21 were the main cases(7 cases,accounting for 53.85%),and the main clinical manifestations were language development disorder and short stature.45,followed by X(3 cases,accounting for 23.08%),the main clinical manifestations were short stature and congenital heart disease.The rest were chromosomal structural abnormalities.Conclusions Abnormal chromosome karyotype is closely related to children s growth and development,language and intelligence development.Chromosome disease is an important cause of growth retardation,short stature and congenital heart disease in children.Peripheral blood chromosome karyotype analysis is helpful to identify the etiology and taking appropriate treatment measures as soon as possible.There is no cure for chromosome disease.Clinical counseling should pay attention to chromosome karyotype analysis and prenatal diagnosis of children with abnormal growth development.

关 键 词：核型分析 染色体异常 儿童 生长发育 

分 类 号：R725.8[医药卫生—儿科]