Clinical aspects of the fragile X syndrome.
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.
Department of Human Genetics, Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA. Ted.Brown@opwdd.ny.gov
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D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics* / Q000378:metabolism; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype
D051860:Fragile X Messenger Ribonucleoprotein 1