鲁西南地区矮小症儿童染色体核型分析  

Chromosome karyotype analysis on children with short stature of southwest Shandong

作　　者：孙海玲[1,2] 张梅 潘慧[2,3] 汲宝兰 张艳红 班博[1,2] SUN Hailing;ZHANG Mei;PAN Hui;JI Baolan;ZHANG Yanhong;BAN Bo(Department of Endocrinology,the Affiliated Hospital of Jining Medical University;Chinese Center for Behavioral Medical Research in Growth and Development,Jining 272029,China;Department of Endocrinology,Peking Union Medical College Hospital,Beijing 100730,China)

机构地区：[1]济宁医学院附属医院内分泌科 [2]中国生长发育行为医学研究中心,济宁272029 [3]北京协和医院内分泌科,北京100730

出　　处：《济宁医学院学报》2018年第2期111-114,119,共5页Journal of Jining Medical University

基　　金：山东省人口和计划生育委员会项目(2014年第32号);济宁市科技助推新旧动能转换计划项目(2017SMNS007)

摘　　要：目的通过对2013年2月—2018年1月在济宁医学院附属医院诊治,来自鲁西南地区的195例矮小症儿童行外周血染色体核型检查,分析矮小症的遗传病因。方法对年龄3~16岁的195例矮小症儿童,培养外周血淋巴细胞行染色体核型分析。结果在195例染色体核型中,异常染色体核型25例,占12.8%。其中染色体多态性8例,包括染色体缢痕1例、随体增加1例、异染色质区增加3例、臂间倒位2例及平衡易位1例;性染色体异常16例,包括Turner综合征14例,45,X/46,X,del(Y)核型1例,Y染色体长度变异1例;性反转1例(46,XY女性)。结论染色体异常是引起儿童矮小症的主要原因之一,常规遗传学检查可为部分矮小儿童明确病因,为临床诊疗提供科学依据。Objective To analyse the genetic causes of short stature of southwest Shandong by testing on chromosome karyotype of peripheral blood in children with short stature.Methods By culturing peripheral blood lymphocyte to analyse chromosome karyotypes of 195 children with short stature from 3 to 16 years old.Results Among 195 cases of children,25 cases were detected with abnormal karyotypes,accounting for 12.8%of the total.Among them,there were 8 cases of chromosomal polymorphisms,including 1 case of chromosomal constriction,1 case of increase in satellite,3 cases of heterochromatin area,2 cases of inversion between arm and 1 cases of balanced translocation.There were 16 cases of sex chromosome abnormality,including 14 cases of Turner syndrome,1 cases of 45X/46,X,del(Y),1 case of Y chromosome length variation,and 1 case of sex reversal(46,XY,female).Conclusion Chromosome abnormality is one of the main causes of short stature.Conventional cytogenetic examination can provide a clear etiology for some children with short stature and scientific basis for clinical diagnosis and treatment.

关 键 词：矮小症 染色体 核型分析 

分 类 号：R584.2[医药卫生—内分泌]