Fragile X syndrome.
Fragile X syndrome is the most important X-linked etiology of mental retardation and developmental disability currently known. Accumulating evidence also indicates that male and female carriers of the fragile X genetic abnormality demonstrate a relatively specific pattern of psychiatric disturbance. Fragile X males frequently manifest behaviors from the autistic spectrum whereas females show dysfunction in social interaction, thought processes, and affective regulation. In this review, an overview of the fragile X syndrome is presented with a focus on the occurrence of particular neuropsychiatric characteristics in males and females. Relevant data from recent genetic and neurobiological research is also described. The ability to study individuals with a specific genetic cause of psychopathology such as fragile X syndrome makes this condition of particular interest to biological psychiatry.
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD.
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Reiss
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Freund
D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics; D002525:Cerebellar Cortex / Q000473:pathology; D002526:Cerebellar Diseases / Q000175:diagnosis / Q000235:genetics; D002873:Chromosome Fragility; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008609:Mental Status Schedule; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012737:Sex Factors