先天智力低下患儿脆性X染色体分析  

Study of fragile X chromosome in the child patients with inherent mental retardation

作　　者：刘愉[1] 邓琳菲[1] 吕军艳[1] 孙利炜[1] 于露丹[1] 

机构地区：[1]吉林省长春市儿童医院,130051

出　　处：《中国妇幼保健》2007年第8期1094-1095,共2页Maternal and Child Health Care of China

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。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.

关 键 词：先天智力低下 儿童 脆性X染色体 

分 类 号：R596[医药卫生—内科学]