If an individual has been diagnosed with alpha-thalassemia X-linked intellectual disability syndrome by genetic testing (confirmed to have a change or mutation in the ATRX gene), other relatives can be tested. The relatives who would benefit most from testing are other males with symptoms of the condition who are related through females to the person with the ATRX gene mutation, and females who are at risk to be carriers.
Prenatal diagnosis for pregnancies at increased risk is possible if the mutation in the ATRX gene in the family is known. This can be done during the pregnancy by testing of fetal cells obtained through CVS (chorionic villus sampling), performed between 10 to 13 weeks of pregnancy, or amniocentesis, performed between 15 to 20 weeks of pregnancy.
A medical geneticist and/or a genetic counselor is the best person to help identify appropriate individuals for testing as well as the most appropriate way to test those family members. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.
Other Questions About Alpha-thalassemia/mental retardation syndrome, x-linked
- Why does ATRX cause alpha-thalassemia X-linked intellectual disability syndrome?
- Who else in my family should I test for alpha-thalassemia X-linked intellectual disability syndrome?
- Where do I find other people with alpha-thalassemia X-linked intellectual disability syndrome?
- What specialists should a person with alpha-thalassemia X-linked intellectual disability syndrome see?
- What is X-linked alpha-thalassemia/mental retardation syndrome?
