DiGeorge syndrome is associated with which chromosomal deletion?

Prepare for the Oral and Maxillofacial Surgery (OMFS) Board Exam with flashcards and multiple choice questions. Each question offers hints and explanations. Ace your board exam!

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is primarily associated with a deletion on chromosome 22. This genetic condition results from the loss of a small piece of chromosome 22, which can lead to various developmental issues including heart defects, immune system problems, and hypoparathyroidism. The specific region of deletion on chromosome 22 is located at band q11.2, which is crucial for the proper development of several organ systems.

In summary, the association of DiGeorge syndrome with chromosome 22 is significant due to the critical genes present in that region that play a vital role in embryonic development. The abnormalities linked to this deletion reflect the wide-ranging effects on the body's physiological systems.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy