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Tests and diagnosis
By Mayo Clinic staffBecause 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 investigating for other reasons.
Prenatal genetic testing, such as amniocentesis or chorionic villus sampling, can provide a diagnosis of triple X syndrome before birth.
After birth, triple X syndrome can be diagnosed by performing a chromosome analysis on a blood sample taken from your daughter.
Before genetic testing, it's important to receive genetic counseling to provide you with all the information about triple X syndrome.
References
- Triple X syndrome. U.S. National Library of Medicine's Genetics Home Reference. http://ghr.nlm.nih.gov/condition/triple-x-syndrome. Accessed Sept. 9, 2012.
- 47 XXX syndrome. Genetics and Rare Diseases Information Center. http://rarediseases.info.nih.gov/GARD/Condition/5672/47_XXX_syndrome.aspx. Accessed Sept. 9, 2012.
- Afshun A. Triple X syndrome. Journal of the Pakistan Medical Association. 2012;62:392.
- Otter M, et al. Triple X syndrome: A review of the literature. European Journal of Human Genetics. 2010;18:265.
- Chromosome abnormalities. National Human Genome Research Institute. http://www.genome.gov/11508982#6. Accessed Sept. 10, 2012.
- Chromosomal abnormalities. March of Dimes. http://www.marchofdimes.com/baby/birthdefects_chromosomal.html. Accessed Sept. 11, 2012.
- Tartaglia NR, et al. A review of trisomy X (47,XXX). Orphanet Journal of Rare Diseases. 2010;5:8.
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