A Boy Is Admitted to the Neonatal Intensive Care Unit

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?

A) Abnormal ciliary motility
B) Chromosome microdeletion
C) Defect in fibrillin synthesis
D) Genomic imprinting
E) Mutation of tumor suppressor gene
F) Nucleotide repeat expansion

Correct Answer:

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