Abstract: Imprinting disorders are a group of rare genetic diseases caused by genomic imprinting dysregulation.They are largely misdiagnosed or missed due to the fact that they involve multiple systems and the clinical manifestations are various，some of which are with genetic heterogeneity.The pathogenesis of imprinting disorders is complex and unclear，resulting in a lack of effective treatment methods.This article introduces the pathogenesis，related diagnosis methods and the latest progress in treatment research of imprinting disorders in order to provide reference for the diagnosis and management of imprinting disorders.

Key words: genomic imprinting, imprinting disorders, diagnosis, therapy

摘要： 印记遗传病是由基因组印记失调引起的一组罕见遗传性疾病。其常累及全身多个系统，临床表现多种多样且部分具有遗传异质性，因此易误诊、漏诊。由于印记遗传病发病机制复杂，多数尚不清楚，目前仍缺乏有效的治疗方法。文章通过介绍印记遗传病的发病机制、相关诊断方法及治疗研究进展，为印记遗传病的诊治提供参考。

关键词: 基因组印记, 印记遗传病, 诊断, 治疗