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Forensic Medicine · Identification: sex determination, chromatin
Sample itemA tall, phenotypically male adult has small firm testes, gynaecomastia and infertility. A buccal smear shows a Barr body in many nuclei. What is the likely karyotype?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. 47,XXY
The number of Barr bodies equals the number of X chromosomes minus one. A male with one Barr body therefore has two X chromosomes, and the picture of tall stature, small testes and gynaecomastia indicates Klinefelter syndrome, 47,XXY. A chromatin-positive smear does not by itself prove female sex.
Option by option
A. 45,X
45,X (Turner syndrome) gives a chromatin-negative smear and a female phenotype.
B. 47,XXY (correct)
Correct. Two X chromosomes give one Barr body in a phenotypic male.
C. 47,XYY
47,XYY has one X, so there is no Barr body.
D. 46,XY
46,XY has one X and no Barr body.
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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