435例矮小儿童染色体核型分析

Chromosome karyotypes of 435 short stature children

目的 通过对435例身材矮小的儿童进行染色体核型分析,探讨身材矮小与染色体异常的关系.方法 对435例身材矮小患儿进行外周血淋巴细胞培养及染色体核型分析.结果 435例矮小儿童中,检出异常核型80例,占被检总数的18.4％.其中性染色体异常26例,常染色体异常54例,男性患儿30例,女性患儿50例.结论 染色体异常是引起身材矮小的重要原因之一,染色体核型分析为矮小儿童的诊断和治疗提供重要的依据.

Objective To explore the relationship between chromosomal abnormalities and short stature anazlyzing the chromosome karyotypes of 435 short stature children. Methods The peripheral blood lymphocytes of 435 short stature children were cultured and their chromosome karyotypes were analyzed. Results Among the 435 short stature children, abnormal karyotypes were detected in 80 cases, accounting for 18.4% of the total. Among them, 26 got sex chromosome abnormalities, and 54 autosomal abnormalities; 30 were male, and 50 female. Conclusions Chromosome abnormality is one of the important causes of short stature. Karyotype analysis provides an important evidence for the diagnosis and treatment of short stature children.