双胞胎姐妹中的脆性X综合征。

The fragile-X syndrome in twin sisters.

作者信息

Cowie V A, Singh K R, Wheater R, Bird J

出版信息

J Ment Defic Res. 1987 Mar;31 ( Pt 1):81-5. doi: 10.1111/j.1365-2788.1987.tb01344.x.

DOI:10.1111/j.1365-2788.1987.tb01344.x

Abstract

Two mentally handicapped dizygotic twin sisters were found to possess the Fragile-X lesion. They showed different levels of cognitive deficit. The hypothesis that the level of cognitive function in female carriers of the Fragile-X lesion may be influenced by Lyonization is discussed. The mother of the twins was schizophrenic. Although she was an obligate carrier her psychosis was thought not to be causally connected with the Fragile-X status.

摘要

发现两名智力障碍的异卵双胞胎姐妹患有脆性X染色体病变。她们表现出不同程度的认知缺陷。本文讨论了脆性X染色体病变女性携带者的认知功能水平可能受莱昂化影响的假说。这对双胞胎的母亲患有精神分裂症。尽管她是一名必然携带者，但她的精神病被认为与脆性X染色体状态没有因果关系。