Introduction to Medical Inheritance: Patterns in Families - BM5 RCR1

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1. Which of the following set of symptoms are a typical manifestation of Marfans Syndrome?

  • Continous eyebrows, short nose & small hands
  • Joint strength, limited range of movement & bent-over posture
  • Aortic dilatation, lens dislocation & long slender limbs
  • Osteogenesis Imperfecta, multiple fractures & deformed bones
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2. Which of the following is an example of an X-linked disease?

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

3. True or false: X-linked dominant characteristics are most common in women?

  • Bob
  • False
  • True
  • Pass

4. Which of the following is an example of an autosomal recessive disease?

  • Duchenne Muscular Dystrophy
  • Phenylketonuria
  • Myotonic Dystrophy
  • Von Hippel-Lindau Disease

5. Which of the following is the most accurate definition for a recessive characteristic?

  • The characteristic only manifests itself in the genotype when the phenotype is heterozygous
  • The characteristic only manifests itself in the phenotype when the genotype is homozygous for those alleles
  • The characteristic only manifests itself in the phenotype when the genotype is heterozygous
  • The characteristic only manifests itself in the genotype when the phenotype is homozygous for those alleles
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