A child presents with ataxia, seizures, and inappropriate laughter. Genetic testing reveals maternal imprinting defect with paternal uniparental disomy. Which syndrome is most consistent?
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Correct answer: Angelman syndrome
Angelman syndrome results from loss of maternal UBE3A expression, often due to paternal uniparental disomy or maternal deletion. Clinical features include ataxia and happy demeanor. Prader-Willi involves the paternal genes on the same locus.
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