Haematology: Fanconi anaemia: practice question

A Pediatrics question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pediatrics · Haematology: Fanconi anaemia

Sample item

A 6-year-old has pancytopenia, short stature, cafe-au-lait spots and absent thumbs. Which test confirms the diagnosis?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

A. Chromosomal breakage study with diepoxybutane or mitomycin C

Fanconi anaemia is an autosomal recessive DNA repair disorder with congenital anomalies, progressive marrow failure and cancer predisposition. Increased chromosomal breakage after exposure to DNA cross-linking agents is diagnostic. Treatment is androgens or stem cell transplant.

Option by option

  • A. Chromosomal breakage study with diepoxybutane or mitomycin C (correct)

    Correct. Breakage analysis confirms Fanconi anaemia.

  • B. Coombs test

    Coombs test detects immune haemolysis.

  • C. Bone age

    Bone age does not confirm it.

  • D. Sweat chloride

    Sweat chloride is for cystic fibrosis.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is A, Chromosomal breakage study with diepoxybutane or mitomycin C. Fanconi anaemia is an autosomal recessive DNA repair disorder with congenital anomalies, progressive marrow failure and cancer predisposition.

Why is "Coombs test" not the answer?

Coombs test detects immune haemolysis.

Why is "Bone age" not the answer?

Bone age does not confirm it.

Why is "Sweat chloride" not the answer?

Sweat chloride is for cystic fibrosis.

What concept does this question test?

It tests Haematology: Fanconi anaemia in Pediatrics. Increased chromosomal breakage after exposure to DNA cross-linking agents is diagnostic. Treatment is androgens or stem cell transplant.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Haematology: Fanconi anaemia?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.