Take our online questionnaire to find out if genetic counseling is appropriate for you.

< Back to disease list

Turner Syndrome

Turner syndrome (also called 45,X) is a chromosome abnormality that is caused when all or part of one of the sex chromosomes is missing. This condition occurs only in females. Turner syndrome can be detected during pregnancy with prenatal testing. Talking to a genetic counselor can help you understand your risk and the available testing options for Turner syndrome.

Symptoms

• Short stature
• Wide neck, broad and flat chest
• Abnormal puberty, infertility
• Congenital heart defects
• Hypothyroidism
• Cognitive difficulties

Causes/Risk Factors

• Exact causes of chromosome loss are unknown
• Abnormal ultrasound findings can suggest a prenatal diagnosis of Turner syndrome

Genetic Test/Carrier Screen

The following genetic tests may be appropriate based on your personal and/or family history.

• Diagnostic testing for chromosome abnormalities
  
  • Amniocentesis
  • Chorionic villus sampling (CVS)

See our pre-conception and prenatal services

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Learn More

March of Dimes

National Organization for Rare Disorders

Support Groups

Turner Syndrome Society