目的：探讨Xp21邻近基因缺失综合征患者的临床特点和基因特征，为临床诊断提供参考。方法：回顾性分析1例Xp21邻近基因缺失综合征临床资料及染色体检测结果，并对相关文献进行复习。结果：患儿表现为发育迟缓、智力障碍、反复呕吐、反复感染、反复抽搐、低钠血症、高甘油三酯血症、高转氨酶血症、胆结石、心肌损害和肝功能损害。染色体CNV检测显示X染色体从p21.3到p21.1区域的缺失，大小为8.84 Mb，共缺失44个基因，包括4个致病基因：IL1RAPL1、GK、NROB1、DMD，诊断为Xp21邻近基因缺失综合征。结论：Xp21邻近基因缺失综合征临床表现多样，诊断困难，一旦考虑此病，需完善基因检测尽早诊断。 Objective: To investigate the clinical and genetic characteristics of Xp21 contiguous gene deletion syndrome, and to provide reference for clinical diagnosis. Methods: We retrospectively analyzed the clinical data and chromosome test results of a boy and reviewed the relevant literature. Results: The child presented with developmental retardation, mental retardation, repeated vomiting, repeated infections, repeated convulsions, hyponatremia, hypertriglyceridemia, hypertransaminasemia, gallstones, myocardial damage, and liver function impairment. CNV test of chromosome showed a deletion of X chromosome from p21.3 to p21.1, with the size of 8.84 Mb. A total of 44 genes were deleted, including four related morbid genes: IL1RAPL1, GK, NROB1 and DMD, and he was diagnosed as Xp21 contiguous gene deletion syndrome. Conclusion: The clinical manifestations of Xp21 contiguous gene deletion syndrome are diverse and the diagnosis is difficult. Once this disease is considered, genetic testing should be carried out as soon as possible.