Abstract
AbstractIn 1980, Turner et al. described a sample of females affected with fragile X syndrome and recommended that all females with mental retardation of unknown etiology be evaluated for this condition. Since then, much has been learned about fragile X syndrome and its effects on females. Although research has primarily focused on abnormal cognitive and emotional findings in a proportion of women, studies have also addressed the physical characteristics and specific findings of young girls. Some of the early results were puzzling because so little was understood about the genetics of this condition, but much has become clear since the gene was sequenced in 1991. Many questions about this condition are still unanswered, but are likely to be addressed in the near future. This article highlights major advances made during the past 10 years with regard to females having fragile X syndrome. © 1995 Wiley‐Liss, Inc.
Published Version
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