725例身材矮小儿童染色体核型结果分析  

Analysis of chromosome karyotype results in 725 children with short stature

作　　者：刘楠[1] 佟彤[1] 陈悦[1] LIU Nan;TONG Tong;CHEN Yue(Tianjin Children＇s Hospital,300134,China)

机构地区：[1]天津市儿童医院儿科研究所,天津300134

出　　处：《中国优生与遗传杂志》2018年第7期44-45,51,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过对身材矮小儿童的染色体核型分析,探讨导致儿童身材矮小的遗传学病因。方法对725例身材矮小儿童进行外周血淋巴细胞G显带染色体核型分析。结果共发现异常核型55例,异常率为7.6%,其中性染色体异常46例(83.6%),常染色体异常9例(16.4%)。结论性染色体数目异常和结构畸变是导致儿童身材矮小的重要遗传因素,常染色体异常亦可能引起生长发育相关基因的微缺失或重复而导致儿童身材矮小。Objective：To explore the genetics causes of short stature children through chromosome karyotype analysis of children with short stature. Methods：Karyotype analysis of G banding chromosomes in peripheral blood lymphocytes of 725 children with short stature. Results：Of 725 cases with short stature,55 cases were detected with abnormal chromosome karyotype,accounting for 7.6%.There were 46 cases of sex chromosome abnormalities（83.6%）and 9 case of autosomal abnormalities（16.4%）. Conclusion：Sex chromosome number abnormal and structure distortion is an important reason for children with short stature.Autosomal abnormalities may also cause micro deletion or repetition of growth and development related genes,resulting in short stature in children.

关 键 词：身材矮小 儿童 核型分析 异常核型 

分 类 号：R725[医药卫生—儿科]