The typical female karyotype (“sex” chromosome make-up) for females is 46,XX. This means that the typical female has 46 chromosomes including two that look like X’s. People with Turner syndrome have only one X chromosome present and fully functional. This is sometimes referred to as 45,XO or 45,X karyotype. In a person with Turner Syndrome, female sex characteristics are usually present but underdeveloped compared to the typical female.
The following signs are more common in women with Turner Syndrome than in the general population: short stature, lymphodema (swelling of hands and feet), broad chest and widely spaced nipples, low hairline, low-set ears, and infertility.
However, Turner Syndrome shows up differently in different people—some signs associated with TS may be more obvious in one woman than in the next.
Mosaic Turner Syndrome can also occur. This is when some cells have two “sex” chromosomes (XX) but others only have one (X). A person can also have a mosaic in the form 46,XY/45X. Other mosaic types are also possible. When mosaic Turner Syndrome occurs, the person usually doesn’t have all the associated signs of TS, and may have other signs of intersex.
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