🏥 USMLE Exam Prep

A couple has a child diagnosed with achondroplasia. Neither parent has the condition. What is the most likely genetic mechanism for this child's disease?

A Autosomal recessive inheritance
B X-linked dominant inheritance
C Germline mosaicism in one parent
D De novo autosomal dominant mutation

✓ Correct Answer: Option D

Achondroplasia is an autosomal dominant disorder, but approximately 85% of cases arise from a de novo mutation in the FGFR3 gene. This means the mutation occurred spontaneously in the child, and neither parent carries the affected allele.

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