目的探讨X染色体结构异常与临床表型的相关性。方法取10例患者静脉血进行淋巴细胞培养,每个病例常规核型分析30个分裂相。结果 10例患者染色体核型分析结果共六种结构异常,X短臂缺失3例,占30%,X长臂等臂染色体2例,占20%,嵌合体5例,占50%。结论 X染色体结构异常可以具有多种表型,并且与核型密切相关。 Objective To investigate the relationship between X chromosome structural abnormalities and clinical phenotypes. Methods Venous blood was collected from 10 patients for lymphocyte culture, and 30 karyotypes were analyzed for routine karyotype in each case. Results There were six structural abnormalities in the karyotype analysis of 10 patients. There were 3 cases of X short arm missing, 30% of them, 2 cases of X arm long arm arm chromosomes in 20 cases, and 5 cases of chimerism in 50 cases. Conclusion X chromosome structural abnormalities can have a variety of phenotypes, and closely related to the karyotype.