Turner syndrome
45,X
Also known as: Monosomy X, 45 X
45,X is the karyotype of Turner syndrome, in which a single X is present and the second sex chromosome is missing. Short stature and ovarian insufficiency are characteristic, and loss of the SHOX gene drives much of the growth phenotype.
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X
missing
?
What the notation means
45- total chromosome count (normal is 46)
X- sex chromosomes: a single X (monosomy X)
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).