# DiGeorge syndrome is due to:
A. Congenital thymic aplasia
B. Deficiency of complement factors
C. Inborn error of metabolism
D. Chromosomal anomaly
The correct answer is D. Chromosomal anomaly.
The correct answer is:
D. Chromosomal anomaly
Explanation: DiGeorge syndrome is caused by a chromosomal anomaly, specifically a 22q11.2 deletion.
This deletion leads to developmental defects in the pharyngeal pouches, resulting in: Congenital thymic aplasia or hypoplasia (leading to T-cell deficiency).
Parathyroid hypoplasia (causing hypocalcemia).
Cardiac defects (e.g., Tetralogy of Fallot, interrupted aortic arch).
Facial dysmorphisms.
Other options explained:
A. Congenital thymic aplasia: While thymic aplasia is a feature of DiGeorge syndrome, it is secondary to the chromosomal deletion.
B. Deficiency of complement factors: Seen in complement pathway defects, not in DiGeorge syndrome.
C. Inborn error of metabolism: DiGeorge syndrome is not related to metabolic enzyme deficiencies.
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