Description

Turner Syndrome is associated with one functional X chromosome, which can arise in a number of situations.


Turner Syndrome is usually not inherited (most women with Turner Syndrome are infertile), with most cases arising from a random event affecting the reproductive cells in a parent.

 

Genetic scenarios:

(1) monosomy X (XO)

(2) one nonfunctional X chromosome

(3) mosaicism

 

Nonfunctional X chromosome may involve:

(1) isochromosome Xq

(2) ring X chromosome

(3) Xp or Xq deletion

 

Mosaicism (some cells have XX and others do not):

(1) with Y chromosome

(2) with monosomy X

(3) with nonfunctional X chromosome

 

Associations:

(1) mosaicism with a Y chromosome is associated with gonadoblastoma

(2) Xp deletions can be inherited


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