【摘要】 目的 ;对脆性X综合征家系中的先证者临床表现、遗传特点进行总结、分析 ,探讨其诊断问题。方法 :采用临床检查与细跑遗传学检测相结合进行分析。结果 :脆性X综合征在临床表现、细跑遗传学特点及遗传规律上均有独特之处 ,为临床上遗传咨询、早期诊断提供了重要参考价值。结论 :提高对脆性X综合征的临床诊断意识 ,有助于该病的早期诊断及遗传咨询。更多还原

【Abstract】 Objective:Clinical and cytogenetic features of the probands of fragile X syndrome were analysed to explore the diagnosis of the disease.Methods:Both clinical physical examination and cytogenetic detection were used.Results:Fragile X syndrome shows its own features in clinical and genetic model,thus providing some important data for clinical genetic counselling and early diagnosis.Conclusion:We should strengthen our diagnosis sense on the fragile X syndrome for early diagnosis the disease and genetic counselling.更多还原