A boy is admitted to the neonatal intensive care unit shortly after being born to a 28-year-old woman who had poor prenatal care. His temperature is 37.2 C (99 F), blood pressure is 70/30 mm Hg, pulse is 128/min, and respirations are 40/min. Pulse oximetry shows 85% on room air. Physical examination is significant for orbital hypertelorism, a submucous cleft palate, and bifid uvula. An echocardiogram reveals right ventricular hypertrophy, pulmonary stenosis with ventricular septal defect, and overriding aorta. The patient's diagnosis is eventually confirmed by fluorescence in situ hybridization. These findings are most consistent with which of the following mechanisms?

Question

A boy is admitted to the neonatal intensive care unit shortly after being born to a 28-year-old woman who had poor prenatal care.  His temperature is 37.2 C (99 F), blood pressure is 70/30 mm Hg, pulse is 128/min, and respirations are 40/min.  Pulse oximetry shows 85% on room air.  Physical examination is significant for orbital hypertelorism, a submucous cleft palate, and bifid uvula.  An echocardiogram reveals right ventricular hypertrophy, pulmonary stenosis with ventricular septal defect, and overriding aorta.  The patient's diagnosis is eventually confirmed by fluorescence in situ hybridization.  These findings are most consistent with which of the following mechanisms?

Quizplus · Accepted Answer

Eductional Objective: Chromosome 22q11.2 microdeletion results in DiGeorge syndrome (cardiac anomalies, hypoplastic or absent thymus, and hypocalcemia) and velocardiofacial syndrome (cleft palate, cardiac anomalies, dysmorphic facies).  Fluorescence in situ hybridization is the "gold standard" for detecting a microdeletion.

A Boy Is Admitted to the Neonatal Intensive Care Unit