Medical genetics: chromosomal disorders, inheritance patterns
Human Anatomy · MBBS
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Study notes
A couple has one child with cystic fibrosis; both parents are healthy. Cystic fibrosis is autosomal recessive — the child inherited a faulty CFTR gene copy from each healthy carrier parent. Each future pregnancy carries the same independent odds: 25% affected, 50% carrier, 25% free. The parents' health doesn't change this — carriers show no disease. This 1-in-4 pattern is the signature of recessive inheritance.