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Fragile X Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Fragile X syndrome is the most common form of heritable intellectual disability, affecting approximately 1 in 1,250 males and 1 in 2,000 females (Webb 1989). The prevalence appears to be 1 in 4,000–6,000 males and 1 in 8,000–10,000 females. Martin and Bell first documented X-linked mental retardation in 1943. Subsequent identification of a fragile site on the long arm of the X chromosome (Lubs 1969), discovery of cell culture medium-dependent fragile site, and recognition of a unique constellation of physical features served to distinguish fragile X syndrome from other X-linked mental retardation syndromes.

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Fragile X Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_96-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_96-2

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  • Online ISBN: 978-1-4614-6430-3

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