DiGeorge syndrome, first described in 1968 by the pediatric endocrinologist Angelo DiGeorge1, is a syndrome caused by the deletion of a small piece of chromosome 22. It is one of the most common causes of mental retardation due to a genetic deletion syndrome2, and, next to Down syndrome, it is also the most common genetic cause of congenital heart disease. Here we present a brief introduction to the common knowledge of DiGeorge syndrome.
