Isochromosome Xq
46,X,i(X)(q10)
Also known as: i(Xq), isochromosome X
46,X,i(X)(q10) pairs one normal X with an isochromosome of the X long arm, so the short arm of the X is present in only one copy. It is a recurrent structural cause of Turner syndrome.
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i(X)
X
What the notation means
46- total chromosome count (the normal human number)
X- sex chromosomes: a single X (monosomy X)
i(X)(q10)- an ISOCHROMOSOME i(X): a mirror-image chromosome made of two long (q) arms, so the short (p) arm is lost; you end up with 3 copies of one arm and 1 of the other
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).