What is the probable genetic defect in this child with recurrent infections, tetany, oral candidiasis & a hea murmur?: (A) 21q deletion, (B) 21p deletion, (C) 22q deletion, (D) 22p deletion
Answer is C. 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