🏥 USMLE Exam Prep

A genetic disorder characterized by a CGG trinucleotide repeat expansion in the 5' untranslated region of the FMR1 gene, leading to anticipation and intellectual disability, is most consistent with which diagnosis?

A Huntington's Disease
B Fragile X Syndrome
C Myotonic Dystrophy
D Spinocerebellar Ataxia Type 1

✓ Correct Answer: Option B

Fragile X Syndrome is caused by a CGG trinucleotide repeat expansion in the FMR1 gene's 5' UTR, leading to gene silencing and intellectual disability. It is a classic example of anticipation.

💡 Why is B) the correct answer?

The correct answer to the question "A genetic disorder characterized by a CGG trinucleotide repeat expansion in the 5' untranslated region of the FMR1 gene, leading to anticipation and intellectual disability, is most consistent with which diagnosis?" is Option B: Fragile X Syndrome.

The other options — A) Huntington's Disease, C) Myotonic Dystrophy, D) Spinocerebellar Ataxia Type 1 — are incorrect for this USMLE Exam Prep question. As explained above: Fragile X Syndrome is caused by a CGG trinucleotide repeat expansion in the FMR1 gene's 5' UTR, leading to gene silencing and intellectual disability. It is a classic example of anticipation.

📚 About This USMLE Exam Prep Practice Question

This 3-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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