1 MCQs in Pediatrics for NEET PG
A 10-month-old female infant presents with seizures that began at 8 months of age, severe developmental delay, and characteristic facial features including a broad beaked nose continuous with a high forehead, widely spaced eyes, and a short philtrum. Karyotype analysis reveals the abnormality marked **A** in the diagram. Which of the following is the MOST appropriate next step in confirming the diagnosis and providing accurate recurrence counseling for the parents?
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