Question:

Which is true regarding ataxia telangiectasia:

Updated On: Jul 9, 2025
  • Increase in AFP
  • Increases the risk of squamous cell carcinoma
  • Autosomal dominant
  • None of above
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The Correct Option is A

Solution and Explanation

Ataxia telangiectasia is a rare, inherited condition that affects various systems in the body, particularly the nervous and immune systems.
  • Increase in AFP: Alpha-fetoprotein (AFP) is a substance that becomes elevated in ataxia telangiectasia. This is a marker often used in clinical practice to help diagnose and monitor the condition.
  • Increases the risk of squamous cell carcinoma: While ataxia telangiectasia is associated with an increased risk of cancer, particularly lymphoid malignancies like lymphoma and leukemia, the risk for squamous cell carcinoma specifically is not significantly heightened.
  • Autosomal dominant: Ataxia telangiectasia is actually inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations. It is not autosomal dominant.
Given these explanations, the correct statement about ataxia telangiectasia is that there is an increase in AFP levels. Thus, "Increase in AFP" is the true statement regarding ataxia telangiectasia.
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