DiGeorgeVCFS
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a portion of chromosome 22. It is characterized by a wide range of physical and developmental abnormalities, including congenital heart defects, immune system dysfunction, and cognitive impairments. The syndrome is named after the pediatrician who first described it, Dr. Harry W. DiGeorge.
The deletion typically occurs during the early stages of embryonic development and is often inherited in an
Individuals with DiGeorge syndrome may exhibit a variety of symptoms, including a small jaw and palate, low-set
The diagnosis of DiGeorge syndrome is typically made through genetic testing, which can identify the deletion