Question

What condition is characterized by a deletion in chromosome 22q11.2 and results in characteristic facial features, cardiac abnormalities, and recurrent infections?

A. DiGeorge syndrome
B. Severe combined immunodeficiency
C. Adenosine deaminase deficiency
D. Toll-like receptor signaling defect

Answer 1

A. DiGeorge syndrome. DiGeorge syndrome is a genetic disorder characterized by a deletion in chromosome 22q11.2, resulting in characteristic facial features, cardiac abnormalities, and recurrent infections.

Step-by-step explanation:

The condition characterized by a deletion in chromosome 22q11.2 and results in characteristic facial features, cardiac abnormalities, and recurrent infections is DiGeorge syndrome. DiGeorge syndrome is a genetic disorder that affects several body systems, including the immune system, heart, and facial development. It is caused by a deletion of a small piece of chromosome 22, which leads to the characteristic symptoms.