Medical genetics: mosaicism: practice question

A Anatomy 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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Anatomy · Medical genetics: mosaicism

Sample item

A boy has mild features of Down syndrome with near-normal intelligence. Karyotype shows 47,+21 in 30% of lymphocytes and 46 in the rest. What is the mechanism?

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

The answer and the reasoning

D. Mitotic nondisjunction after fertilisation in an early embryonic cell

Mosaicism means that cells of one individual have different karyotypes, usually from postzygotic mitotic nondisjunction. Only the descendants of the abnormal cell line are trisomic, so the phenotype is often milder. Nondisjunction in meiosis would produce a zygote with trisomy in all cells.

Option by option

  • A. Meiosis II nondisjunction in the sperm

    A meiosis II error also gives non-mosaic trisomy because the abnormal gamete affects all cells.

  • B. Robertsonian translocation in a parent

    A Robertsonian carrier parent would produce translocation Down syndrome with 46 chromosomes in all cells.

  • C. Meiosis I nondisjunction in the oocyte

    Meiotic error produces a zygote trisomic in every cell and causes full Down syndrome.

  • D. Mitotic nondisjunction after fertilisation in an early embryonic cell (correct)

    Correct. Postzygotic mitotic nondisjunction yields two cell lines and a milder picture.

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 Anatomy question

What is the answer to this Anatomy question?

The best answer is D, Mitotic nondisjunction after fertilisation in an early embryonic cell. Mosaicism means that cells of one individual have different karyotypes, usually from postzygotic mitotic nondisjunction.

Why is "Meiosis II nondisjunction in the sperm" not the answer?

A meiosis II error also gives non-mosaic trisomy because the abnormal gamete affects all cells.

Why is "Robertsonian translocation in a parent" not the answer?

A Robertsonian carrier parent would produce translocation Down syndrome with 46 chromosomes in all cells.

Why is "Meiosis I nondisjunction in the oocyte" not the answer?

Meiotic error produces a zygote trisomic in every cell and causes full Down syndrome.

What concept does this question test?

It tests Medical genetics: mosaicism in Anatomy. Only the descendants of the abnormal cell line are trisomic, so the phenotype is often milder. Nondisjunction in meiosis would produce a zygote with trisomy in all cells.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. 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 Medical genetics: mosaicism?

Learn every nerve by its route, its muscles and what a lesion looks like at the bedside. That one habit answers a large share of questions. Then use the flashcards and the other Anatomy 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.