1 MCQs in Pediatrics for NEET PG
A 3-year-old boy is referred to pediatrics with elfin facies, a characteristic "cocktail party" personality, and a systolic ejection murmur. Echocardiography reveals supravalvular aortic stenosis. FISH analysis is performed using an ELN probe on metaphase chromosomes. The structure marked **A** in the diagram shows an absent ELN probe signal at 7q11.23 on one chromosome 7 homolog, while the contralateral chromosome 7 (marked **B**) shows both the ELN probe and control probe signals. Which of the following best explains the pathogenesis of this patient's condition?
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