A 12-year-old boy has a cough and earache for the past 2 days. He has a history of recurrent infections, including otitis media, diarrhea, and pneumonia. Physical examination shows an erythematous right tympanic membrane, a cleft palate, and murmur suggestive of congenital heart disease. A thoracic CT scan shows a small thymus. Results of laboratory studies suggest mild hypoparathyroidism. Which of the following diagnostic studies is most likely to be helpful in diagnosing this patient’s condition?
A 12-year-old boy has a cough and earache for the past 2 days. He has a history of recurrent infections, including otitis media, diarrhea, and pneumonia. Physical examination shows an erythematous right tympanic membrane, a cleft palate, and murmur suggestive of congenital heart disease. A thoracic CT scan shows a small thymus. Results of laboratory studies suggest mild hypoparathyroidism. Which of the following diagnostic studies is most likely to be helpful in diagnosing this patient’s condition?
💡 Explanation
A 12-year-old boy has a cough and earache for the past 2 days. He has a history of recurrent infections, including otitis media, diarrhea, and pneumonia. Physical examination shows an erythematous right tympanic membrane, a cleft palate, and murmur suggestive of congenital heart disease. A thoracic CT scan shows a small thymus. Results of laboratory studies suggest mild hypoparathyroidism. Which of the following diagnostic studies is most likely to be helpful in diagnosing this patient's condition?
✓ Correct Answer: C. FISH analysis with a probe for chromosome 22q11.2
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