摘要目的：探讨多重连接依赖式探针扩增（ MLPA）在疑似染色体微小重排引起的发育迟缓或智力障碍（ DD/ID）患儿诊断中的应用价值。方法回顾性分析2012年6月至2013年12月在北京大学第一医院儿科神经门诊和病房就诊并临床诊断为不明原因的DD/ID患儿共276例的检测结果。患儿外周血提取基因组DNA，用MLPA方法进行检测，包括检测亚端粒区缺失/重复的P070和P036试剂盒；检测22个常见染色体微缺失和重复综合征的P245试剂盒。结果在276例患儿中检测到58例异常，检出率为21％。累及1条常染色体亚端粒区重排者32例，其中缺失突变25例，重复突变7例；同一条染色体两臂亚端粒区均缺失者2例；累及2条常染色体亚端粒区者9例，均表现为一条染色体亚端粒区缺失，而另一条重复；累及3条染色体亚端粒区者1例，2条表现为重复，1条为缺失。累及性染色体亚端粒重复1例，缺失1例（Xq/Yqdel）。检测出了22种常见微缺失重复综合征中的11种综合征，6种位于亚端粒区。结论 MLPA技术可以作为一种高效和特异的方法对诊断不明确的DD/ID患儿进行遗传病因学检测。

abstractsObjective To evaluate the feasibility of screening large cohorts of patients with developmental delay or intellectual disability ( DD/ID) with multiplex ligation-dependent probe amplification ( MLPA).Methods The peripheral blood samples were collected and DNA extracted from 276 patients with DD/ID from June 2012 to December 2013.MLPA was employed , including two distinct kits SALSA P 036 and P070 for sub-telomere screening and SALSA P 245 for 22 common microdeletion and microduplication syndromes.Results MLPA analysis revealed 58 (21%) cases of chromosome aberrations.Among 32 cases of subtelomeric rearrangements on one chromosome , there were deletion (n=25) and duplication (n=7);subtelomeric deletions on p and q arms of one chromosome ( n =2 ); subtelomeric rearrangements on 2 chromosomes, one deletion and other duplication ( n =9 ); subtelomeric rearrangements on 3 chromosomes, 2 duplications and other deletion ( n =1 ) .There were 1 case of subtelomeric rearrangements on chromosome X.A total of 11 syndromes were detected among 22 common microdeletion and microduplication syndromes and 6 located at subtelomeric regions.Conclusion MLPA is an effective cytogenetic diagnostic tool for detecting chromosomal abnormalities , such as DD/ID.