DiGeorge syndrome is a rare congenital primary immune deficiency disease that includes symptoms such as abnormal characteristic facial features, increased susceptibility to infection, hypoplasia of thymus and parathyroid glands and cardiomyopathy. The incidence of DiGeorge syndrome is in the range of 1 per 3000 births, causing morbidity and mortality mainly due to congenital heart defect, where most deaths occur 6 months after birth. The second most common cause of mortality is infections due to severe immune deficiency. The syndrome is frequently progressive to psychomotor retardation with a 50% chance of mental retardation.
Most patients with DiGeorge syndrome have a micro deletion from chromosome 22 at position q11.2, produced by an error in recombination at meiosis. The symptoms of the disease are related to the amount of genetic material lost in the deletion.