Fragile X syndrome Quiz: Ace Your Exams

Get ready to dominate your medical and nursing exams by using our dynamic quizzes to elevate your knowledge and increase your confidence. Whether you're gearing up for the USMLE®, COMLEX®, or your next in-class assessment, Osmosis quizzes tackle key topics in pathology, diagnostics, and treatment approaches. By honing in on clinical readiness and decision-making, we make sure the knowledge you gain empowers you both in the classroom and in real-world practice. Jump in and supercharge your exam prep!

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A 14-year old boy with a history of developmental delay is brought to the physician by his parents for a routine checkup. The boy’s vocabulary is limited to 25 words. He has had difficulties adjusting at school but is currently enrolled in special education and has had improvement in multiple developmental domains. His parents report repetitive hand flapping. Physical examination reveals large ears and a long face. The patient’s mother has an intellectual disability, but she was able to successfully graduate from college. Which of the following is the most likely etiology of this patient’s condition?

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Extra copy of chromosome 21

Mutation in the Fragile X mental retardation gene

Mutation in hypoxanthine-guanine phosphoribosyltransferase-1 gene

Maternal alcohol use during pregnancy

Microdeletion of a paternally inherited gene on chromosome 15