Rocchi M, Pecile V, Archidiacono N, Monni G, Dumez Y, Filippi G
Prenat Diagn. 1985 May-Jun;5(3):229-31. doi: 10.1002/pd.1970050311.
A prenatal diagnosis of the fragile-X syndrome in monozygotic male twins is reported. The expression of the fragile site was discordant in amniotic cells. Fetal blood and, after therapeutic abortion, skin fibroblasts were positive in both fetuses. Our data suggest that great care should be taken when using amniocytes for prenatal diagnosis of the fragile-X syndrome.
报道了一对单卵双生男性双胞胎中脆性X综合征的产前诊断情况。在羊水中,脆性位点的表达不一致。两个胎儿的胎儿血以及治疗性流产后的皮肤成纤维细胞均呈阳性。我们的数据表明,在使用羊膜细胞进行脆性X综合征的产前诊断时应格外谨慎。