Mosaic Turner syndrome
mos 45,X[12]/46,XX[18]
Also known as: 45,X/46,XX, mosaic 45 X
This karyotype shows mosaic Turner syndrome, with two cell lines: 45,X and 46,XX. The bracketed numbers are the cells counted in each line, and mosaic forms are often milder than a non-mosaic 45,X.
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X
missing
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What the notation means
45- total chromosome count (normal is 46)
X- sex chromosomes: a single X (monosomy X)
[12]- seen in 12 cells counted for this clone
Clinical notes
45,X, Turner syndrome
A single X, no second sex chromosome (monosomy X). Short stature, ovarian dysgenesis/streak gonads, webbed neck, coarctation/bicuspid aortic valve, lymphedema. Often mosaic (45,X/46,XX) or with an i(Xq).