🏥 USMLE Exam Prep

A 25-year-old male presents with tall stature, arachnodactyly, lens subluxation, and an echocardiogram revealing aortic root dilation. This constellation of findings is characteristic of a genetic disorder primarily affecting connective tissue due to a mutation in the *FBN1* gene. What is the most likely inheritance pattern for this condition?

A Autosomal recessive
B X-linked recessive
C Autosomal dominant
D Mitochondrial inheritance

✓ Correct Answer: Option C

The description matches Marfan syndrome, which is an autosomal dominant disorder caused by a mutation in the *FBN1* gene encoding fibrillin-1, a key component of connective tissue.

💡 Why is C) the correct answer?

The correct answer to the question "A 25-year-old male presents with tall stature, arachnodactyly, lens subluxation, and an echocardiogram revealing aortic root dilation. This constellation of findings is characteristic of a genetic disorder primarily affecting connective tissue due to a mutation in the *FBN1* gene. What is the most likely inheritance pattern for this condition?" is Option C: Autosomal dominant.

The other options — A) Autosomal recessive, B) X-linked recessive, D) Mitochondrial inheritance — are incorrect for this USMLE Exam Prep question. As explained above: The description matches Marfan syndrome, which is an autosomal dominant disorder caused by a mutation in the *FBN1* gene encoding fibrillin-1, a key component of connective tissue.

📚 About This USMLE Exam Prep Practice Question

This 2-level USMLE Exam Prep question from the Step 1 – Basic Sciences topic is part of BrainForge Quiz's free exam preparation library. Each question includes the correct answer and a detailed explanation to help you understand the underlying concept, not just memorize the answer.

How to use this page: Read the question above, consider all four options (A through D), then check the highlighted correct answer and explanation. For active timed practice, start a free USMLE Exam Prep practice test or use flashcards for spaced repetition review.

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