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    SubjectsPediatricsPedigree — Genomic Imprinting (Prader-Willi vs Angelman Syndrome)
    ClinicalPediatrics

    Pedigree — Genomic Imprinting (Prader-Willi vs Angelman Syndrome)

    1 MCQs in Pediatrics for NEET PG

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    hard

    A 3-year-old boy presents with severe developmental delay, absent speech, and a characteristic ataxic gait with jerky arm movements. His parents note he has frequent inappropriate laughter and a happy demeanor despite his severe disability. EEG shows high-voltage 2–3 Hz delta waves with posterior triphasic activity. The pedigree shows this is a de novo case. The chromosomal region marked **A** in the diagram (15q11-q13 imprinted region) is affected. Which of the following BEST explains the clinical presentation and the parental origin of the lesion in this child?

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