What is the probable genetic defect in this child with recurrent infections, tetany, oral candidiasis & a hea murmur?
Correct Answer: 22q deletion
Description: Digeorge syndrome: Caused by 22q deletion C- Cardiac anomaly A- Abnormal facies (hypeelorism, antimongoloid slant, sho philtrum, mandibular hypoplasia. T- Thymic hypoplasia C- Cleft palate H- Hypocalcemia
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Pediatrics
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