ABPath Molecular Genetic Pathology Practice Questions - American Board Of Pathology Molecular Genetic Pathology Subspecialty Certification Examination Exam

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A 4-year-old with severe hypotonia, hyperphagia, and obesity is suspected to have Prader-Willi syndrome. Which mechanism most commonly causes Prader-Willi syndrome?

Maternal deletion of 15q11-q13 Paternal deletion of 15q11-q13 Maternal uniparental disomy of chromosome 15 Paternal uniparental disomy of chromosome 15

Correct Answer:

Paternal deletion of 15q11-q13

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