Diagnosis

Because many girls with triple X syndrome are healthy and have a normal appearance, they may remain undiagnosed all their lives, or the diagnosis may be discovered while checking other issues. Triple X syndrome can be confirmed by genetic testing — chromosome analysis using a blood sample.

Before genetic testing, it's important to receive genetic counseling to get comprehensive information about triple X syndrome.

Dec. 03, 2015
References
  1. Triple X syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/triple-x-syndrome. Accessed Sept. 11, 2015.
  2. Trisomy X. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/trisomy-x/. Accessed Sept. 11, 2015.
  3. Triple X syndrome. Merck Manual Consumer Version. http://www.merckmanuals.com/home/children-s-health-issues/chromosomal-and-genetic-abnormalities/triple-x-syndrome. Accessed Sept. 11, 2015.
  4. Van Rijn S, et al. The social behavioral phenotype in boys and girls with an extra X chromosome (Klinefelter syndrome and trisomy X): A comparison with autism spectrum disorder. Journal of Autism and Developmental Disorders. 2014;44:310.
  5. Otter M, et al. Triple X syndrome: A review of the literature. European Journal of Human Genetics. 2010;18:265.
  6. Van Rijn S, et al. Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXX. Genes, Brain and Behavior. 2015;14:200.
  7. Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. Sept. 25, 2015.
  8. Pichurin PN (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 20, 2015.