Lachiewicz A M, Spiridigliozzi G A, McConkie-Rosell A, Burgess D, Feng Y, Warren S T, Tarleton J
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Am J Med Genet. 1996 Aug 9;64(2):278-82. doi: 10.1002/(SICI)1096-8628(19960809)64:2<278::AID-AJMG9>3.0.CO;2-Q.
Fragile X DNA studies were carried out on all obligate carriers of a large fragile X family with 10 mentally retarded individuals. One 64-year-old carrier man with an altered FMR-1 allele was not described as being mentally retarded or as having any limitations in function. He was married, raised 8 children, and worked as an auto mechanic. On examination, he had macrocephaly and mild macroorchidism but few of the other typical physical findings of males with fragile X syndrome. His Full Scale IQ is 73, and his Vineland Adaptive Behavior Composite is 73. On the Woodcock-Johnson Psycho-Educational Battery-Revised, he achieved standard scores of 64 in Reading, 55 in Math, and 83 in Knowledge. His DNA findings showed a broad smear on Southern blot analysis of 100-500 CGG repeats and no methylation at the EagI site upstream of the FMR-1 protein coding region. His FMR-1 protein production is 12% of normal. His daughters all have large premutations, with somatic instability in the size of the CGG repeat lengths. They all have evidence of academic underachievement and 2 have physical characteristics frequently described in individuals with fragile X.
对一个有10名智力发育迟缓个体的大型脆性X家族的所有明确携带者进行了脆性X DNA研究。一名64岁的携带改变的FMR-1等位基因的男性未被描述为智力发育迟缓或有任何功能受限。他已婚，养育了8个孩子，是一名汽车修理工。检查时，他有巨头畸形和轻度巨睾症，但几乎没有脆性X综合征男性的其他典型体征。他的全量表智商为73，文兰适应行为综合评分为73。在韦氏儿童智力量表修订版测试中，他在阅读方面的标准分数为64，数学方面为55，知识方面为83。他的DNA检测结果显示，Southern印迹分析中有100 - 500个CGG重复序列的宽条带，FMR-1蛋白编码区域上游的EagI位点无甲基化。他的FMR-1蛋白产量为正常水平的12%。他的女儿们都有大的前突变，CGG重复序列长度的体细胞不稳定。她们都有学业成绩不佳的证据，其中2人具有脆性X个体中经常描述的身体特征。
