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Anatomy · Medical genetics: chromosomal microarray
Sample itemWhich abnormality would a chromosomal microarray fail to detect?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Balanced reciprocal translocation
A chromosomal microarray measures copy-number gains and losses, so it detects microdeletions and duplications that are too small for a karyotype. A balanced rearrangement changes no copy number, so it is invisible to array methods and needs a karyotype.
Option by option
A. Terminal deletion of 5p
A terminal deletion is a copy-number loss and is detected.
B. Duplication at 17p12
A duplication is a copy-number gain and is detected.
C. Balanced reciprocal translocation (correct)
Correct. A balanced rearrangement involves no net gain or loss of DNA.
D. Microdeletion at 22q11.2
A microdeletion changes copy number and is detected.
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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