title: Psychiatric disability associated with the fragile X chromosome.
abstract: Fragile X (or Martin-Bell) syndrome, a common, genetic, mental retardation disorder is increasingly being recognized as a major cause of cognitive disability and psychiatric illness in boys. Here, we present a study in which relatives in 4 generations of a large family with the fra(X) chromosome were given comprehensive psychiatric evaluations in order to further describe the psychopathology associated with this condition. Three of 4 males with the fra(X) chromosome were found to have autistic behavior. An adult fra(X) male had a chronic schizoaffective disorder and mental retardation. In female relatives, a relationship was found between the fra(X) carrier status and psychopathology including schizoaffective and major affective disorders.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001321:Autistic Disorder / Q000235:genetics; D001714:Bipolar Disorder / Q000235:genetics; D002648:Child; D003866:Depressive Disorder / Q000235:genetics; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics / Q000523:psychology*; D006579:Heterozygote; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D008875:Middle Aged; D019964:Mood Disorders / Q000235:genetics; D010375:Pedigree; D011618:Psychotic Disorders / Q000235:genetics; D012559:Schizophrenia / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000523:psychology*