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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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

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

subject

Has Abstract

pub_date

1989-11-01 00:00:00

pages

697-705

issue

5

eissn

0002-9297

issn

1537-6605

journal_volume

45

pub_type

杂志文章

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