Di George syndrome

Question 1

What causes immunodeficiency in DiGeorge syndrome?

Answer 1

T-cell deficiency and dysfunction

Question 2

Chromosomal abnormality in DiGeorge syndrome

Answer 2

microdeletion syndrome
=> deletion of a section of chromosome 22

AKA velocardiofacial syndrome and 22q11.2 deletion syndrome

Question 3

Inheritance

Answer 3

Autosomal dominant

Question 4

Clinical features of DiGeorge syndrome (CATCH22 mneumonic)

Answer 4

C - Cardiac abnormalities
A - Abnormal faces
T - Thymic aplasia
C - Cleft palate
H - Hypocalcaemia/ hypoparathyroidism
22 - Caused by chromosome 22 deletion