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    SubjectsPediatricsKaryotype — Smith-Magenis Syndrome 17p11.2 Deletion FISH (RAI1)
    ClinicalPediatrics

    Karyotype — Smith-Magenis Syndrome 17p11.2 Deletion FISH (RAI1)

    1 MCQs in Pediatrics for NEET PG

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    A 4-year-old boy is brought to the pediatric clinic with a distinctive clinical presentation: brachycephalic facies with a broad square face, midface hypoplasia, and a characteristic downturned "tented" upper lip. His parents report severe behavioral concerns including compulsive self-hugging (spasmodic upper-body squeezes when excited), hand-licking with page-flipping behavior, and compulsive nail-pulling. Most notably, he has a severely inverted sleep-wake cycle with peak alertness during daytime and fragmented sleep at night. FISH analysis reveals a microdeletion at the region marked **A** in the karyotype diagram. Which of the following best explains the pathophysiology of his inverted circadian melatonin rhythm?

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