Abstract Objective This retrospective study is designed to improve our understanding and diagnosis ability by analysis of the diversity clinical features and its pathogenesis in children with 22q11.2 deletion syndrome. Methods Seven patients confirmed with 22q11.2 DS who was diagnosed in individuals with a submicroscopic deletion of chromosome 22 detected by molecular cytogenetic analysis were reviewed. We analyzed their clinical characterizations, diagnose evidences and management. Results There were 2 boys and 5 girls in this group, one of them was prenatal diagnosis, others were confirmed at the mean age of two month. The clinical findings comprised of one hundred percent of heart malformation and anomaly face, immune deficiency is present in 28.6%, hypocalcemia and cleft palate are present in 14.3%. All cases confirmed by FISH test, management with usual manners depending on the individuals clinical features. Conclusions Heart malformation and anomaly face are the prominent characteristics in this group of 22q11.2 DS, it is mainly caused by gene mutation and can be diagnosed early in life by individuals clinical features and FISH test. The cardiovascular defects involved with outflow tract problems and immunodeficiency secondary to the T-cell production abnormality are the key factors relate to the anticipation.