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A24-day-old term infant was brought to the clinic because he developed seizure...
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A24-day-old term infant was brought to the clinic because he developed seizure and was not thriving. A chest x-ray and echocardiogram revealed an enlarged heart and truncus arteriosus with a large ventricular septal defect. Examination also revealed showed low-set ears and thymic hypoplasia.
Fluorescent in situ hybridization of the buccal mucosa found a 22q11
deletion. The T cell deficiency disorder he is likely to be suffering from is
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