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    SubjectsPediatricsSotos Syndrome NSD1 Deletion
    ClinicalPediatrics

    Sotos Syndrome NSD1 Deletion

    1 MCQs in Pediatrics for NEET PG

    1 Medium
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    Sample Questions

    medium

    A 3-year-old boy presents with accelerated linear growth, height and head circumference >97th percentile, and a characteristic facial appearance with dolichocephalic macrocephaly, frontal bossing, and downslanting palpebral fissures. Developmental assessment reveals mild intellectual disability and motor delay. Skeletal survey shows advanced bone age. The genetic defect marked **A** in the diagram (5q35 NSD1 deletion) is confirmed by sequencing. Which of the following best explains the pathophysiological mechanism of overgrowth in this condition?

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