title: Parental inheritance and psychological disability in fragile X females.
abstract: Studies of adult female carriers of the fragile X chromosome indicate that certain psychological problems occur with a greater frequency and severity than expected. This study examines the association of parental origin of the fragile X chromosome and of fragility detected in the karyotype with measures of social, educational, and psychological functioning in a group of adult fragile X females of normal intelligence. The results show that, as a group, women who inherit the fragile X chromosome from their mother and who demonstrate positive fragility in the karyotype (MI+ group = [maternal inheritance with positive fragility]) manifest significantly more impairment of social, educational, and psychological functioning when compared with fragile X females with paternal inheritance or negative fragility or with a matched control group comprising non-fragile X women. In particular, MI+ women show lower levels of both educational achievement and socioeconomic status and a greater degree of disturbance in communication, socialization, affect, and thought processes. These clinical findings are consistent with the recently advanced hypothesis which proposes that a two-stage process leading to chromosome imprinting in a preoogonial cell causes the fragile X syndrome.
authors.affiliation: Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD.
authors.forename: A L
authors.initials: AL
authors.lastname: Reiss
authors.forename: L
authors.initials: L
authors.lastname: Freund
authors.forename: S
authors.initials: S
authors.lastname: Vinogradov
authors.forename: R
authors.initials: R
authors.lastname: Hagerman
authors.forename: A
authors.initials: A
authors.lastname: Cronister
mesh_terms: D001008:Anxiety Disorders / Q000235:genetics; D001714:Bipolar Disorder / Q000235:genetics; D003863:Depression / Q000235:genetics; D004522:Educational Status; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics* / Q000523:psychology*; D006579:Heterozygote; D006801:Humans; D012559:Schizophrenia / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics* / Q000523:psychology*; D012920:Social Behavior Disorders / Q000235:genetics