Parental inheritance and psychological disability in fragile X females

A. L. Reiss, L. Freund, S. Vinogradov, R. Hagerman, A. Cronister

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)697-705
Number of pages9
JournalAmerican Journal of Human Genetics
Volume45
Issue number5
StatePublished - 1989

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