摘要22q11.2缺失综合征(22q11.2DS)是最常见的染色体微缺失综合征，其表型个体差异大且存在外显不全的现象。22q11.2DS属于罕见病，研究进展相对缓慢，限制了对该病的治疗和干预。对22q11.2DS致病机制和基因组关联的研究近年来取得了很大的进步。本综述总结了22q11.2DS发生的机制，重点阐述了 TBX1和 DGCR8基因致病的分子病理机制，最后总结了22q11.2DS心脏和免疫系统外显不全的影响因素，有望促进临床对该病的认识，对其产前诊断、妊娠期指导、康复和干预具有重要的意义。

abstracts22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder. Its phenotype is highly variable with incomplete penetrance. 22q11.2DS is a rare disease, and the research progress is relatively slow, which has restricted its treatment and intervention. In recent years, much progress has been made in the pathogenic mechanism and genome-wide association study of 22q11.2DS. In this review, the pathogenesis of 22q11.2DS was summarized. Thereafter, the molecular and pathological mechanisms of TBX1 and DGCR8 genes were clarified. Finally, factors affecting the penetrance of cardiac and immune system phenotypes were reviewed. This review may enhance the understanding of 22q11.2DS and has important clinical implications on the prenatal diagnosis, genetic counseling, treatment and intervention of this disease.