Introduction to Medical Inheritance: Patterns in Families - BM5 RCR1

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1. An father unaffected by Myotonic Dystrophy and a mother with Myotonic Dystrophy type II (mild symptoms) have a child. Presuming that the mother is heterozygous, what is the chance of the child inheriting the disease?

  • 75%
  • 100%
  • 50%
  • 25%
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2. Which of the following is an example of an X-linked disease?

  • Phenylketonuria
  • Duchenne Muscular Dystrophy
  • Familial Adenomatous Polyposis
  • Cystic fibrosis

3. If a child is affected by a genetic disease, but both the parents are not, what is the most likely mode of inheritance?

  • Y-linked
  • Autosomal Recessive
  • X-linked
  • Autosomal Dominant

4. Which of the following is an example of an X-linked disease?

  • Haemophilia B
  • Neurofibromatosis (type I)
  • Neurofibromatosis (type II)
  • Polycystic Kidney Disease

5. If a mutation is 100% penetrant, what does this mean?

  • All of those with the mutation will be able to pass it on to others
  • If you possess the mutation, you will demonstrate the resulting phenotype (e.g. disease)
  • If you possess the mutation, you won't demonstrate the resulting phenotype (e.g. disease)
  • None of those with the mutation will be able to pass it on to others

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