Risk calculation - autosomal recessive condition (Pompe Disease)
Pompe disease is an autosomal recessive condition with an incidence of 1/40,000. Based on this, calculate the population carrier frequency and calculate the risk for the healthy sibling of an affected individual to have a child with Pompe disease. Note healthy sibling’s partner is healthy and has no family history of Pompe disease. Hint: you must know the healthy sibling’s risk to be carrier.
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