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DiGeorge syndrome: Introduction. DiGeorge syndrome is a genetic, congenital disorder that is present at birth. DiGeorge syndrome affects the endocrine system and includes a wide variety of symptoms and features that differ greatly in severity and character between individuals. Common manifestations of DiGeorge syndrome include heart defects, immune system dysfunction and abnormal facial features.
DiGeorge syndrome is caused by the deletion of a portion of chromosome 22. Each person has two copies of chromosome 22, one inherited from each parent.If a person has DiGeorge syndrome, one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes.Many of these genes haven't been clearly identified and aren't well-understood. The region of chromosome 22 that's deleted in DiGeorge syndrome is known as 22q11.2.ach person has two copies of chromosome 22, one inherited from each parent. If a person has DiGeorge syndrome, one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes.