Research progress in 16p11.2 microdeletion syndrome

16p11.2 microdeletion syndrome is one of the congential genetic diseases displaying autism, intellectual disability (ID), developmental delay (DD), spinal deformity and so on, the incidence of which is approximately three over ten thousand. The phenotypic heterogeneity is significant among patients, but the pathogenic mechanism underlying 16p11.2 microdeletion syndrome is still uncertain. Here, we review the types, clinical phenotypes, possible pathogenic mechanisms and detection technology of 16p11.2 microdeletion syndrome to provide some help for mechanistic study and clinical diagnosis and treatment. Key words: 16p11.2; Deletion; Phenotypes; Heterogeneity