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BOF: 56

A 20-year-old male presents with bleeding oesophageal varices. On examination he has Kayser- Fleischer rings in the cornea. The inheritance of this disorder is:

a)      Autosomal dominant

b)      Autosomal recessive

c)      X-linked recessive

d)      X-linked dominant

e)      Polygenic inheritance

Answer:

b)

This patient has Wilson’s disease, which is inherited in an autosomal recessive fashion due to a mutation on the long arm of chromosome 13

 

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