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Birth defects are responsible for approximately one-half of all pediatric admissions and after accidents, they are the leading cause of death for children. While as many as 16% of infant deliveries involve defects or congenital anomalies that are present at birth, many such genetic disorders or syndromes do not manifest themselves until a person's fourth or fifth decade of life. As such, an understanding of human genetics will serve as an important foundation for the medical student's training of human health across the lifespan.