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DMD – genetic counselling — RACP Paediatrics MCQ

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EasyGeneticsDMD – genetic counsellingRACP Paediatrics

A mother who is a known carrier of Duchenne muscular dystrophy is pregnant. She asks about the risk to this pregnancy. What inheritance pattern and risk should be counselled?

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Correct answer: D — X-linked recessive – 50% risk to sons

Duchenne muscular dystrophy is X-linked recessive. A carrier mother has a 50% chance of passing the mutation to each child. Sons who inherit the mutation will be affected (50% of sons). Daughters who inherit the mutation will be carriers (50% of daughters). Prenatal testing is available.

Reference: RACP Paediatric Curriculum – Genetics