【摘要】 目的:探讨脆性X综合征对先天智力低下儿童病因学诊断的重要性。方法:对2002年10月-2004年12月该院门诊和病房不同程度的智力低下病人204例进行了外周血淋巴细胞低叶酸培养方法诱导脆性位点脆性X染色体研究。Xq 27表达频率>1%者定为阳性,表达频率≤1%者定为阴性。结果:在智力低下的患儿中Down综合征的检出频率最高为38.73%,脆性X综合征次之,检出率为5.39%,其中男性检出率6.06%,女性检出率4.17%,在智力低下中重度组FraX表达率高,反之,智力低下轻度组FraX表达率较低。结论:对先天智力低下儿童有必要进行X染色体脆性位点检查。更多还原

【Abstract】 Objective:To find out the significance of fragile X mental retardation on diagnostic etiology of inherent mental retardation(MR).Methods:From Oct,2002 to Dec,2004,204 children with different degree MR,X-chromosome fragile site were detected by low folic acid cultivation.The expression frequency of Xq27 >1% was positive,while the expression frequency≤1% was negative.Results:The highest frequency of the MR children was Down syndrome,the rate was 38.7%.The second was fragile X mental retardation,the rate was 5.39%,and the rate in boys was 6.06%,and that in girls was 4.17%.The expression frequency of FraX was higher in patients of severe condition.On contrary,the expression frequency was lower in patients of slight condition.Conclusion:It is necessary to detect the site of X chromosome fragility in inherent MR.更多还原