Screening for Fragile X Syndrome

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Fragile X syndrome is the most common inherited form of mental retardation. The syndrome occurs in approximately 1 in 3,600 males and 1 in 4,000-6,000 females. Approximately 1 in 250 females carry the premutation. DNA-based molecular analysis is the preferred method of diagnosis for fragile X syndrome and its premutations. Prenatal testing for fragile X syndrome should be offered to known carriers of the fragile X premutation or full mutation. Women with a family history of fragile X-related disorders, unexplained mental retardation or developmental delay, autism, or premature ovarian insufficiency are candidates for genetic counseling and fragile X premutation carrier screening. © 2010 by The American College of Obstetricians and Gynecologists. Published by Lippincott Williams and Wilkins.




Maat-Kievit, A., & Oostra, B. A. (2006). Screening for Fragile X Syndrome. In When to Screen in Obstetrics and Gynecology (pp. 163–174). Elsevier Ltd.

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