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    SubjectsPediatricsBeckwith-Wiedemann Syndrome - 11p15 Imprinting Overgrowth
    ClinicalPediatrics

    Beckwith-Wiedemann Syndrome - 11p15 Imprinting Overgrowth

    1 MCQs in Pediatrics for NEET PG

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    A neonate born at 38 weeks gestation presents with macrosomia (birth weight 4.6 kg, >97th centile), striking macroglossia with feeding difficulty, omphalocele, hemihyperplasia with right-sided enlargement, and transient neonatal hypoglycemia requiring IV dextrose. Pedigree analysis shows the infant is isolated—parents and siblings are unaffected. Molecular testing reveals the pattern marked **C** in the diagram: a sporadic affected proband with 11p15 IC2 loss of methylation consistent with an imprinting overgrowth disorder. Which of the following best explains the pathophysiology of this presentation?

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