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.


Sept. 03, 2014