Q96.4: Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome

You have a congenital disorder, which means you were born with it. This disorder has characteristics carried on the X chromosomes.

When beginning its development, every single cell in the body contains a complete blueprint of the body. This blueprint consists of genetic information. The genetic information is encrypted in the chromosomes. Every human cell normally contains 23 chromosome pairs, i.e. a total of 46 chromosomes.

The X chromosome and the Y chromosome determine a person’s biological gender. Men normally have one X chromosome and one Y chromosome. Women normally have 2 X chromosomes.

There are cells in your body that have different numbers of X chromosomes. You may still have body cells with 2 X chromosomes, for example. Other body cells may, for example, only have one X chromosome or more than 2 X chromosomes at the same time. This is called Mosaic Down syndrome, or mosaicism.

If you have only one X chromosome, this is called Turner syndrome. You have characteristics that are present in Turner syndrome.

Turner syndrome can have many different characteristics. If you have Turner syndrome, you are normally unable to have your own children. You might be smaller than other women. You may have problems with your heart or kidneys. It is also possible to have other symptoms.