Drugge U, Blomquist H K, Gustavson K H, Holmgren G
Research Archives, University of Umeå, Sweden.
Am J Med Genet. 1991 Feb-Mar;38(2-3):363-6. doi: 10.1002/ajmg.1320380240.
Most studies of fragile X [fra(X)] families are able to document mental impairment only by family history. Using Swedish historical archives and the unique parish catechetical meeting records it is possible to document qualitative phenomena such as literacy for over 100 years. In this way it was possible to identify 7 individuals with mental retardation living in the nineteenth century in an earlier published fra(X) pedigree. Four of them were female. At the present time another 4 severely mentally retarded females with the fra(X) syndrome have been diagnosed in this family. The high prevalence of mentally retarded females might indicate a variant form of the fra(X) syndrome in this family.
大多数脆性X综合征[fra(X)]家系研究只能通过家族史来记录智力损害情况。利用瑞典历史档案和独特的教区教义问答会议记录，能够记录长达100多年的诸如识字能力等质性现象。通过这种方式，在一个先前发表的fra(X)系谱中，得以识别出19世纪生活的7名智力发育迟缓者。其中4名是女性。目前，这个家族又诊断出4名患有fra(X)综合征的重度智力发育迟缓女性。智力发育迟缓女性的高患病率可能表明该家族中存在fra(X)综合征的一种变异形式。
