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Review Question - QID 108026

Hypoparathyroidism Introduction Causes of ↓ PTH release include QID: 108026 (M1.EC.17.4695)
In scope icon M 2 A
QID 108026 (Type "108026" in App Search)
A 2-month-old boy is being evaluated for a heart murmur and moderate respiratory distress. His mother passed all of her routine prenatal screening exams, and the delivery was uncomplicated. On exam, the infant is noted to have a long, narrow face and a small mouth with a cleft palate. His right cheek also seems to spasm when it is palpated by the physician. The cardiac exam reveals a holosystolic murmur. Labs are noteworthy for low calcium and low parathyroid hormone levels, and chest radiograph reveals absent thymic shadow (Figure A). What is the most likely genetic abnormality present in this infant?
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