DiGeorge Syndrome

Question 1

What is DiGeorge syndrome also called?

Answer 1

22q11 deletion syndrome

Question 2

What is DiGeorge syndrome due to?

Answer 2

A microdeletion in a portion of chromosome 22

Question 3

What does DiGeorge syndrome lead to?

Answer 3

A developmental defect in the third pharyngeal pouch and third branchial cleft.

Question 4

Where are the developmental defects in DiGeorge syndrome?

Answer 4

The third pharyngeal pouch and third branchial cleft.

Question 5

What is one of the consequences of a developmental defect in the third pharyngeal pouch and third branchial cleft?

Answer 5

Incomplete development of the thymus gland.

Question 6

What does the incomplete development of the thymus gland cause?

Answer 6

An inability to create functional T cells.

Question 7

What is the pneumonic for the features of DiGeorge syndrome?

Answer 7

CATCH-22

Question 8

What does CATCH-22 stand for?

Answer 8

C – Congenital heart disease
A – Abnormal facies (characteristic facial appearance)
T – Thymus gland incompletely developed
C – Cleft palate
H – Hypoparathyroidism and resulting Hypocalcaemia
22 chromosome affected

Question 9

What congenital heart condition is common with DiGeorge syndrome?

Answer 9

Tetralogy of Fallot

Question 10

What does hypoparathyroidism also cause?

Answer 10

Hypocalcaemia

Question 11

What are additional features of DiGeorge syndrome?

Answer 11

• Learning difficulties

* Recurrent viral/fungal diseases