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目的 为简化筛查标准 ,提高对脆性 X综合征筛查的阳性率 ,研究用简化的六项标准筛查此病。方法 采用九条标准 :智力低下、智力低下家族史、长脸、大 (或突出 )耳朵、注意力不集中及多动、孤独行为、通贯掌、巨睾和关节过度伸展。对 2 0 8例脆性 X综合征可疑病例 (男 190例 ,女 18例 )的筛查进行回顾性分析。结果 用 PCR-southern杂交方法诊断脆性 X综合征 7例。分析通贯掌、巨睾及关节过度伸展在脆性 X综合征的筛查中出现频率低 ,相关欠密切 ,故采用以上九条标准中除此 3项以外的简化的六项标准 ,提出评分≥ 6分时 ,应进一步作实验室检查确诊 ;评分 <6分 ,6 0 %的病例可以除外脆性 X综合征 ,且不遗漏任何阳性病例。使筛查的阳性率提高到 8.8%。结论 采用简化的六项标准筛查脆性 X综合征 ,能从临床特征上除外 6 0 %的可疑病例 ,提高脆性 X综合征临床筛查的阳性率。
Objectives To simplify screening criteria and increase the positive rate of screening for Fragile X syndrome, the study used a simplified six-criteria screening of the disease. Methods Nine criteria were used: mental retardation, impaired family history, long face, large (or prominent) ears, inattention and hyperactivity, loneliness, palpitation, giant testis and joint over-extension. Screening of 208 cases of suspected Fragile X syndrome (190 males and 18 females) was retrospectively reviewed. Results Fragile X syndrome was diagnosed in 7 cases by PCR-southern hybridization. Analysis of through palm, giant testis and joint over-extension in the screening of Fragile X syndrome, the frequency of low, less closely related, so the above nine criteria in addition to the three other than the simplified six criteria, the score ≥ 6 Time-sharing, laboratory tests should be further confirmed; score <6 points, 60% of the cases except for fragile X syndrome, and do not miss any positive cases. The screening positive rate increased to 8.8%. Conclusion The simplified six criteria screening for Fragile X syndrome can exclude 60% of suspected cases from clinical features and improve the positive rate of clinical screening of Fragile X syndrome.