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Anatomy · Medical genetics: mosaicism
Sample itemA 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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