Ans. 45XOTurner's syndrome is a genetic disease with a karyotype of 45, X or 46, XX/45, X (mosaicism) or other structural abnormalities of X chromosomes.With conventional chromosomal studies, about 50% of Turner syndrome patients show a 45,X pattern.* Mosaicism of 45,X with other cell lines such as 46,XX, 46,XY, or 47,XXX are common.* Structural abnormalities of an X chromosome (deletions, rings, or translocations), either isolated or mosaic with a 45,X or 46,XX cell line, are also seen.* With modern cytogenetic techniques, mosaicism is increasingly being detected.* The sho stature in Turner syndrome appears to be caused by the absence of one copy of the SHOX gene, which is located on the sho arm of the X chromosome.
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