临沂地区380例身材矮小患儿外周血染色体核型分析

Chromosomal karyotype analysis of peripheral blood lymphocyte in 380 children with short stature in Linyi

目的通过对临沂地区380例身材矮小的儿童行外周血染色体核型分析,探讨身材矮小与染色体异常的相关性。方法对年龄在3-15岁的380例身材矮小的儿童进行外周血淋巴细胞培养制备染色体核型分析。结果在380例身材矮小的儿童染色体核型分析中,检出异常染色体核型21例,占被检总数的5.23%。其中常染色体结构异常6例,涉及染色体的臂间倒位、平衡易位及染色体的多态性,占异常核型的28.57%。常染色体数目异常1例,为唐氏综合征患者。性染色体异常核型14例,占异常核型的66.67%,包括性染色体数目异常为8例,结构异常为6例,以Turner综合征患者为主。结论性染色体异常是引起儿童身材矮小的主要原因之一,常规细胞遗传学检查可为部分矮小儿童明确病因,为临床诊断和治疗提供科学依据。

Objective：To explore the correlation between short stature children and chromosomal abnormalities by using chromosome karyotype analysis of 380 short stature children. Methods：By culturing peripheral blood lymphocyte to prepare specimen,380 children aged from 3 to 15 years old were performed chromosome karyotype analysis. Results：Among 380 cases of children,21 cases of children with short stature were detected with abnormal karyotypes,accounting for 5.23% of the total. Among them,6 cases were of abnormal autosome karyotypes,involving pericentric inversion,balanced translocation and chromosome polymorphism,accounting for 28.57% of abnormal karyotype. Down′s syndrome was 1 case. 14 cases got sex chromosome karyotype abnormalities,accounting for 66.67% of abnormal karyotypes,including 8 number′s abnormal and 6 structural abnormal,mainly were Turner syndrome. Conclusion：Sex chromosome abnormality is one of the major causes of short stature. Conventional cytogenetic examination provides scientific basis for clinical diagnosis and treatment of short stature children.