DiGeorgei

DiGeorgei is a term that can refer to a few different concepts, primarily related to a genetic disorder and a related syndrome.

The most common association is with DiGeorge syndrome, also known as 22q11.2 deletion syndrome. This is a disorder caused by a deletion of a small segment of chromosome 22. The effects of this deletion can vary widely from person to person, but they often include problems with the heart, immune system, palate, and facial features. Individuals with DiGeorge syndrome may also experience developmental delays, learning disabilities, and behavioral issues. The severity of symptoms can range from mild to severe.

Another related concept is the DiGeorge critical region, which is the specific part of chromosome 22 that is deleted in DiGeorge syndrome. This region contains several genes that are important for the development of various body systems. The exact genes involved and their roles are areas of ongoing research.

Historically, DiGeorge syndrome was described by Dr. Angelo Di George, an American pediatrician, in 1965. He observed a syndrome characterized by thymic hypoplasia (underdevelopment of the thymus gland), parathyroid hypoplasia (underdevelopment of the parathyroid glands), and congenital heart defects. Over time, it became clear that this was part of a broader spectrum of conditions caused by the 22q11.2 deletion.