目的　探讨某些脆性X综合征筛选方法在我国的可行性。方法　按Nolin和Laing等报道的筛选标准对 10例细胞遗传学检查脆性X阳性及PCR法检测FMR 1基因有CGG异常扩增的智力低下患儿进行评分 ,并将本组病人的得分和临床表现与筛选标准进行比较。结果　按上述两种筛选标准得分≥ 5分者占30 % ;仅 1例得分为 3分的病人有智力低下家族史。与前述筛选方法比较 ,本组仅 40 %符合 ,即假阴性率高达6 0 %。结论　上述两种方法不适合国内脆性X综合征患儿的筛选 Objective To investigate the feasibility of screening some Fragile X syndromes in China. Methods According to the screening criteria reported by Nolin and Laing et al., 10 cases of cytogenetics were screened for Fragile X and PCR was used to evaluate the mental retardation in FMR 1 gene with CGG abnormalities. The scores and clinical manifestations Compare with screening criteria. Results According to the above two screening criteria score ≥ 5 points accounted for 30%; only 1 patient scored 3 points have a family history of mental retardation. Compared with the above screening method, only 40% of the group is consistent, that is, the false negative rate as high as 60%. Conclusion The above two methods are not suitable for the screening of children with fragile X syndrome