染色体病是一种严重危害人类健康、影响人口质量的遗传病 ,在新生儿中约 0 8%的人患染色体病[1] 。而患染色体病者 ,往往有特殊的体貌 ,为探讨体貌异常儿童临床表现与外周淋巴细胞染色体异常核型关系 ,我科对近几年来院就诊的 3 60例体貌异常患儿进行外周血淋巴细胞染色体检查 Chromosomal disease is a genetic disease that seriously affects human health and affects the quality of the population. Approximately 0.8% of neonates suffer from chromosomal disease [1]. In patients with chromosomal diseases, often have a special appearance, in order to explore the clinical manifestations of abnormal physical appearance and peripheral lymphocytic chromosome abnormalities karyotype, our department in recent years to visit the hospital of 3 60 cases of abnormal physical appearance of peripheral blood lymphocytes Chromosome examination