脆性X染色体综合征女性患者中的自闭症

Autism in fragile X females.

作者信息

Hagerman R J, Chudley A E, Knoll J H, Jackson A W, Kemper M, Ahmad R

出版信息

Am J Med Genet. 1986 Jan-Feb;23(1-2):375-80. doi: 10.1002/ajmg.1320230129.

DOI:10.1002/ajmg.1320230129

Abstract

We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.

摘要

我们报告了两名患有脆性X综合征（马丁-贝尔综合征）和自闭症的女性。两人均有智力障碍，一人为轻度，一人为重度。细胞遗传学研究显示，淋巴细胞中具有脆性X染色体的比例很高，且失活优先发生在正常X染色体上。自闭症被证明是脆性X综合征在女性中的一种严重行为和认知表现。