USMLE Step 1 Quiz
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GENETICS
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A male infant is born to healthy, unrelated parents of average height. The infant has rhizomelic shortening of the limbs, a large head with frontal bossing, and midface hypoplasia. The findings are characteristic of achondroplasia. There is no family history of this condition on either side. The father is 48 years old.
Which of the following most likely accounts for the infant's condition?
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