Question:medium
Which of the following is true regarding ataxia telangiectasia?
Which of the following is true regarding ataxia telangiectasia?
Show Hint
ATM gene defect, autosomal recessive, lymphoid cancers, and a hallmark raised serum AFP.
Updated On: Jun 23, 2026
- Increase in AFP (alpha-fetoprotein)
- Increases the risk of squamous cell carcinoma
- Autosomal dominant
- None of the above
Show Solution
The Correct Option is A
Solution and Explanation
Step 1: Anchor on the defective gene. The culprit is the ATM (ataxia-telangiectasia mutated) gene, a guardian of the DNA-damage response. Losing it gives genomic instability, hypersensitivity to ionising radiation, and a tendency to lymphoid cancers, plus the named neurological and vascular signs.
Step 2: Test each option against known biology. The disease passes in an autosomal recessive pattern, so calling it autosomal dominant is false. The tumours that cluster here are lymphomas and leukaemias, not squamous cell carcinoma, so that choice is false too.
Step 3: Pick the one true statement. Serum alpha-fetoprotein runs high in roughly 90 percent of patients and is used as a supportive diagnostic clue. That makes the AFP-elevation option the correct answer, and it also rules out "none of the above."
\[\boxed{\text{Increase in AFP}}\]
Step 2: Test each option against known biology. The disease passes in an autosomal recessive pattern, so calling it autosomal dominant is false. The tumours that cluster here are lymphomas and leukaemias, not squamous cell carcinoma, so that choice is false too.
Step 3: Pick the one true statement. Serum alpha-fetoprotein runs high in roughly 90 percent of patients and is used as a supportive diagnostic clue. That makes the AFP-elevation option the correct answer, and it also rules out "none of the above."
\[\boxed{\text{Increase in AFP}}\]
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