On Physical Examination, a 1-Day-Old Child in the Newborn Nursery

On physical examination, a 1-day-old child in the newborn nursery has a noisy, holosystolic murmur. The baby was delivered at 39 weeks to a 36-year-old mom who chose not to get prenatal screening. According to a review of medical data, there is no family history of genetic or chromosomal problems. The infant's vital signs are within normal limits for his age. The remainder of the physical exam reveals a flat face profile, a projecting tongue, and tiny ears. Which of the following events is most likely to have occurred prior to conception?

A) Chromosomal deletion
B) Chromosomal translocation
C) Gene inactivation
D) Meiotic nondisjunction
E) Trinucleotide repeat expansion

Correct Answer:

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