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Tests and diagnosis
By Mayo Clinic staffTriple X syndrome can be identified by performing a chromosome analysis on a blood sample taken from your daughter.
The disorder can also be found during prenatal genetic testing, such as amniocentesis or chorionic villus sampling. But, such prenatal testing is uncommon, recommended only for pregnancies considered high risk due to other factors, such as age and a previous history of health problems. If you decide to have prenatal genetic testing done, it's important to receive genetic counseling before the test.
Because triple X syndrome usually causes few, if any, physical changes, many affected women remain undiagnosed all their lives.
- Otter M, et al. Triple X syndrome: A review of the literature. European Journal of Human Genetics. 2010;18:265.
- Triple X syndrome. U.S. National Library of Medicine's Genetics Home Reference. http://ghr.nlm.nih.gov/condition/triple-x-syndrome. Accessed June 14, 2010.
- Tartaglia NR, et al. A review of trisomy X (47,XXX). Orphanet Journal of Rare Diseases. 2010;5:8.
- Lalatta F, et al. Triple X syndrome: Characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis. European Journal of Pediatrics. In press. Accessed June 14, 2010.
- Zabel CA (expert opinion). Mayo Clinic, Rochester, Minn. July 6, 2010.
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