Wang Z, Taylor A K, Bridge J A
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198-5440, USA.
J Med Genet. 1996 May;33(5):376-8. doi: 10.1136/jmg.33.5.376.
Cytogenetic and molecular genetic analysis of a peripheral blood sample from a 31 year old, non-mentally retarded male with a family history of fragile X syndrome showed unexpected results. Nine percent of cells evaluated cytogenetically expressed a fragile X chromosome and molecular examination of the FMR1 gene showed a highly unusual pattern defined as a minimally methylated fully expanded mutation. This case illustrates the need to recognise exceptional variations of fragile X syndrome mutations.
对一名31岁、无智力障碍且有脆性X综合征家族史的男性外周血样本进行细胞遗传学和分子遗传学分析，结果出人意料。经细胞遗传学评估，9%的细胞表达了一条脆性X染色体，对FMR1基因的分子检测显示出一种高度异常的模式，定义为最小甲基化的完全扩增突变。该病例说明需要认识到脆性X综合征突变的特殊变异情况。
