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    SubjectsPediatricsSotos Syndrome (NSD1)
    ClinicalPediatrics

    Sotos Syndrome (NSD1)

    1 MCQs in Pediatrics for NEET PG

    1 Medium
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    Sample Questions

    medium

    A 3-year-old boy born to unaffected parents presents with overgrowth, macrocephaly with frontal bossing, sparse frontoparietal hair, downslanting palpebral fissures, and mild learning difficulties. Genetic testing confirms a heterozygous NSD1 mutation. The inheritance pattern shown in the pedigree is marked as **A** — autosomal dominant with de novo mutation, unaffected parents, and no consanguinity. Which of the following best explains the recurrence risk for the parents' future children?

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