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    SubjectsPediatrics1p36 Deletion Syndrome
    ClinicalPediatrics

    1p36 Deletion Syndrome

    1 MCQs in Pediatrics for NEET PG

    1 Medium
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    Sample Questions

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    A 18-month-old boy presents with severe developmental delay, profound hypotonia, and seizures since 6 months of age. On examination, he has microbrachycephaly, straight eyebrows, deep-set eyes, midfacial hypoplasia, and a large anterior fontanelle. Echocardiography reveals left ventricular noncompaction. The structure marked **A** in the diagram is suspected based on this clinical presentation. Which of the following is the MOST COMMON TERMINAL DELETION SYNDROME in humans and the FIRST-LINE diagnostic test to confirm this diagnosis?

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