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MMLU / A 2-year-old boy is brought to the physician for a well-child examination. He…

Problem

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question

A 2-year-old boy is brought to the physician for a well-child examination. He was delivered at term after an uncomplicated pregnancy. His birth weight was 3500 g (7 lb 11 oz), and Apgar scores were 8 and 10 at 1 and 5 minutes, respectively. At the age of 15 months, physical examination showed no abnormalities, but he was not yet talking. Both of his parents had learning difficulties in school, and his mother stopped attending after the 10th grade. He has a maternal uncle with cognitive disabilities. He is at the 25th percentile for height, 15th percentile for weight, and 90th percentile for head circumference. He appears irritable, he resists making eye contact, and he is flapping his hands. Which of the following is the most likely cause of this patient's condition?

choices

  1. Frameshift mutation
  2. Missense mutation
  3. Nonsense mutation
  4. Trinucleotide repeat expansion

subject

professional_medicine

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Source and history

task_id
d8d5c2d7-4695-5fb1-8ffe-8080bf82d26d
task_key
all--test--d8d5c2d7-4695-5fb1-8ffe-8080bf82d26d
task_revision_id
1
config / split
all / test

Official source

initial import