1 MCQs in Pediatrics for NEET PG
A 4-year-old girl presents with intractable seizures since 6 months of age, profound intellectual disability, and microcephaly (OFC <3rd centile). Examination reveals characteristic dysmorphism with high forehead, broad nasal bridge, and long philtrum. Ophthalmologic evaluation shows retinal pigmentary abnormalities. EEG demonstrates multifocal epileptiform discharges with diffuse background slowing. Karyotype analysis reveals the chromosomal abnormality marked as **A** in the diagram. Which of the following best explains the pathophysiology of this condition?
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