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Clinical Aspects of the Fragile X Syndrome

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Book cover Modeling Fragile X Syndrome

Part of the book series: Results and Problems in Cell Differentiation ((RESULTS,volume 54))

Abstract

Fragile X syndrome patients express a wide array of cognitive and other gender-specific phenotypic features. These manifestations result not only from molecular mechanisms that are altered as a result of the expansion of a CGG-repeat region in the FMR1 promoter, but also genetic factors such as founder effects and mosaicism. In this chapter, I will summarize the many and varied features of fragile X syndrome as they present themselves in a clinical setting and describe the procedures that are used to diagnose patients. Finally, I will briefly touch on recent developments that will affect patient screening in the future.

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Authors and Affiliations

  1. Department of Human Genetics, Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA

    W. Ted Brown

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  1. W. Ted Brown
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Correspondence to W. Ted Brown .

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Editors and Affiliations

  1. New York State Institute for Basic Resea, Forest Hill Road 1050, Staten Island, 10314, USA

    Robert B. Denman

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Brown, W.T. (2012). Clinical Aspects of the Fragile X Syndrome. In: Denman, R. (eds) Modeling Fragile X Syndrome. Results and Problems in Cell Differentiation, vol 54. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-21649-7_15

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