Turner syndrome

A condition that affects only girls and women, Turner syndrome is caused by the total or partial absence of one of the two X chromosomes. It causes short stature, infertility and a number of other problems. Learn more about the condition, its diagnosis and the different treatment options available.

A karotype is used to confirm a diagnosis of Turner syndrome. A blood sample is taken and examined under the microscope to see all the chromosomes in a cell. The karotype shows up chromosomal anomalies.

It is possible to make a prenatal diagnosis using amniocentesis, where a sample of the amniotic fluid is taken for karyotype analysis.

Turner syndrome can also be diagnosed in childhood (at the age of 8 or 10 on average), or even later.

About 1 in 2,500

Affects one infant girl in 2,500

8 to 10

Generally diagnosed late

Last update 13/04/2017