Abstract: Objective　To investigate the clinical features and gene mutation of Wolf-Hirschhorn syndrome. Methods　Clinical data of four children with with development delay and mental retardation were retrospectively analyzed，who were considered to be with WHS，and chromosomal microarray analysis was used to detect genetic change. Relevant literatures were reviewed. Results　Four children were admitted because of unusual facies（Greek warrior helmet appearance），mental retardation，delayed psychomotor development，hypotonia and epilepsy； 2.24 Mb-3.8 Mb deletion in chromosome 4p16.3 was identified，which confirmed the diagnosis of Wolf-Hirschhorn syndrome. There was no special treatment，just antiepileptic drug and rehabilitation，and regular follow-up was made. Conclusion　Improving chromosomal microarray analysis（CMA） as soon as possible can not only help early diagnosis of Wolf-Hirschhorn syndrome，but also determine the prognosis. Compared with conventional karyotyping analysis，CMA has greater resolution and accuracy，which can provide useful information for genetic counseling.

Key words: Wolf-Hirschhorn syndrome, gene mutation, mental retardation, unusual facies, chromosomal microarray

摘要： 目的　探讨Wolf-Hirschhorn综合征（WHS）临床特征及基因突变。方法　回顾分析2017-11-20—2018-05-26南京医科大学附属儿童医院收治的4例发育延迟及智力低下患儿的临床资料，临床拟诊为WHS。应用染色体微阵列芯片分析技术进行基因检测，并复习相关文献总结疾病特点。结果　2例男性和2例女性患儿因生后特殊面容（希腊头盔样面容）、智力低下、发育延迟、肌张力低下、癫痫，应用染色体微阵列芯片分析技术发现患儿4p16.3区域2.24～3.8 Mb的缺失，确诊WHS，给予抗癫痫及康复治疗并定期随访。结论　尽早完善染色体芯片技术检查有助于早期诊断WHS，且能判断预后。染色体微阵列芯片分析与传统细胞遗传学分析方法相比，具有高分辨和高准确度的优点，可为产前遗传学诊断提供更详细信息。

关键词: Wolf-Hirschhorn综合征, 基因突变, 智力低下, 特殊面容, 染色体微阵列芯片