Concept explainers
Six months pregnant, an expectant mother had a routine ultrasound that showed that the limbs of the fetus were unusually short. Her physician suspected that the baby might have a genetic form of dwarfism called achondroplasia, an autosomal dominant trait occurring with a frequency of about 1 in 27,000 births. The parents were directed to a genetic counselor to discuss this diagnosis. In the conference, they learned that achondroplasia is caused by a mutant allele. Sometimes it is passed from one generation to another, but in 80 percent of all cases it is the result of a spontaneous mutation that arises in a gamete of one of the parents. They also learned that most children with achondroplasia have normal intelligence and a normal life span.
What information would be most relevant to concluding which of the two mutation origins, inherited or new, most likely pertains in this case? How does this conclusion impact on this couple's decision to have more children?
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Concepts of Genetics (12th Edition)
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- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning