The likelihood of a normal child with a chromosome 22q11 deletion is very small, and belongs to a group of 22q11.2 microdeletion syndromes with an incidence of 1:4000 live births, with clinical manifestations that include cardiac malformations, thymus developmental abnormalities, developmental delays, intellectual anomalies, and psychiatric anomalies. Termination of pregnancy is recommended for prenatal diagnosis and multidisciplinary management is required for postnatal detection. 22q11.2 microdeletion syndrome refers to a group of clinical syndromes caused by heterozygous deletions in the region 22q11.21-q11.23, which may result in cardiac malformations, facial anomalies, thymic dysplasia, cleft palate, and hypocalcemia, and may also present with developmental delays, mental retardation, and psychiatric anomalies of varying degrees. Microdeletion syndrome 22q11.2 is the most common microdeletion syndrome in humans, occurring at an incidence of 1:4,000 live births, and is the second most common cause of congenital heart disease. microdeletions of the proximal part of the long arm of chromosome 22 are detected in 90% to 95% of patients. Preimplantation or prenatal diagnosis is effective in preventing the birth of affected children. This chromosomal abnormality is inherited from parents in approximately 5% to 10% of cases and is inherited in an autosomal dominant manner; children of affected parents are 50% more likely to have the disease, and the children are usually clinically more severely affected than their parents. Chromosomal and genome-wide FISH testing of clinically suspected patients and parents with a history of adverse maternal outcomes can provide genetic counseling and clinical decision-making. Currently, the treatment of patients is mainly symptomatic in combination with a multidisciplinary approach. The prognosis depends on the severity of the clinical manifestations.