1 MCQs in Pediatrics for NEET PG
A 2-week-old male neonate born to non-consanguineous parents presents with the clinical features shown in the diagram. The structure marked **A** (macroglossia) is causing difficulty with feeding and mild stridor. On examination, the infant also has an omphalocele and prominent ears with posterior helical pits. Serum glucose is 38 mg/dL despite early feeding. Which of the following genetic mechanisms is MOST likely responsible for this clinical presentation?
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