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Is Turner syndrome xo or xxy?

Published in Turner Syndrome Genetics 2 mins read

Turner syndrome is primarily XO, though variations exist. About half of individuals with Turner syndrome have the XO chromosome arrangement, while the other half have a mosaic chromosomal composition.

Turner Syndrome primarily involves a missing or non-functioning X chromosome in females.

Here's a breakdown:

  • XO (Monosomy X): Approximately half of individuals with Turner syndrome have only one X chromosome (45,XO). This means they are missing one sex chromosome.
  • Mosaicism: The other half have mosaicism, meaning some cells have the typical XX chromosome arrangement, while others have XO.
  • Other variations: In rare cases, Turner syndrome can be associated with other chromosomal abnormalities involving the X chromosome.
  • XXY: XXY is associated with Klinefelter syndrome, not Turner syndrome. Klinefelter syndrome is characterized by males having an extra X chromosome.
Syndrome Chromosome Arrangement Sex
Turner Syndrome XO, mosaicism (e.g., XO/XX) Female
Klinefelter Syndrome XXY Male

In summary: Turner syndrome is characterized by XO (monosomy X) in about half of the cases. The other half are mosaics with some cells having XO and others having XX. Turner Syndrome is not associated with the XXY chromosome arrangement.

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