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.
Aug. 16, 2017
- Triple X syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/triple-x-syndrome. Accessed Sept. 11, 2015.
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- 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.
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