22q11微缺失综合征的相关临床特征及其在诊断中的应用研究

Study on the relative clinical features of 22q11 deletion syndrome and its application in the clinical diagnosis

目的整理归纳22q11微缺失综合征(22q11 DS)的相关临床特征,并探讨其在诊断预测方面的临床意义。方法自2012年7月至2014年3月,共收集了来自辽宁省沈阳、铁岭、本溪、阜新、锦州、营口、葫芦岛等7市县的福利院、特殊教育学校以及本中心疑似22q11微缺失综合征患儿156例,综合评估疑似患儿心脏、免疫、内分泌、生长发育、认知、异常面容、精神等几方面的临床显性特征。采用染色体荧光原位杂交(FISH)技术对对疑似患儿外周血标本22q11微缺失进行检测。结果 156例疑似患儿经FISH检测后,确诊22q11 DS 30例,阳性率为19.23%;7种临床特征变量在所有疑似患儿中的分布不一,分布最广的为先天性心脏畸形在22q11 DS中(93.33%)。经χ~2检验,7类临床特征在22q11 DS组和实验室阴性组之间的分布存在统计学差异,所有临床特征变量在22q11 DS中占的比例更大;特征变量"整体面容异常"的灵敏度和阴性预测值最高,均为100%,但特异度和阳性预测值不高,分别为45.00%和30.50%;进一步Logistic回归分析发现,先天性心脏畸形、免疫问题和整体面容异常是三项重要的诊断预测变量,正确率为89.74%。结论精确的临床评估对于初次筛选的患儿是否有22q11缺失的危险性是有效的,"先天性心脏畸形"、"免疫问题"、"整体面容异常"三种临床特征变量对22q11 DS的诊断预测具有一定的价值。

Objective To analyze the relative clinical features of 22 q11 deletion syndrome（ 22 q11 DS） and to discuss the application of clinical features in the clinical diagnosis. Methods From July 2012 to March 2014,156 suspected cases from the institution,special education schools,as well as our center in the Shenyang,Tieling,Benxi,Fuxin,Jinzhou,Yingkou,Huloudao city of Liaoning province were collected.Several aspects of clinical dominant trait of the suspected cases,such as heart,immune,endocrine,growth and development,cognition,abnormal facial features,spirit and so on,were comprehensively evaluated. The peripheral blood specimens of the suspected cases were detected with Fluorescence In Situ Hybridization（ FISH） for the 22 q11 deletion. Results 30 cases were confirmed 22 q11 DS among the 156 suspected cases through the FISH detection,and the positive rate was 19. 23%; The distribution of seven kinds of clinical features varies in all suspected cases and the most widely distribution were congenital cardiac malformations in the 22 q11 DS（ 93. 33%）. The differences of the distribution of seven kinds of clinical features between 22 q11 DS group and negative laboratory group were statistically significant and the proportions of all clinical characteristics variables in 22 q11 DS were bigger; The sensitivity and NPV of ＂ global dysmorphic facial pattern＂ variable were the highest,both 100%,however,the specificity and PPV is not high,45. 00% and 30. 50%,respectively; Besides,logistic regression were conducted and indicated that the single best predictors of 22 q11 DS were congenital cardiac abnormalities,immune defects and global dysmorphic facial pattern and the accuracy was 89. 74%. Conclusion The accurate clinical evaluation was effective for the initial screening of children to determine whether there was the risk of loss of 22 q11. The clinical features of congenital cardiac abnormalities,immune defects and global dysmorphic facial pattern might have a certain value for 22 q11 DS diagnosis.