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[Multiplex ligation-dependent probe amplification for detecting submicroscopic chromosomal abnormalities in Chinese children with global developmental delay or intellectual disability].

Authors: Songtao S. Wang, Hong H. Pan, Pei P. Pei, Xuefei X. Zheng, Ying Y. Zhang, Yinan Y. Ma, Xinhua X. Bao, Yanling Y. Yang, Ye Y. Wu, Yu Y. Qi
Published: 11/21/2014, Zhonghua yi xue za zhi


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).


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 P036 and P070 for sub-telomere screening and SALSA P245 for 22 common microdeletion and microduplication syndromes.


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.


MLPA is an effective cytogenetic diagnostic tool for detecting chromosomal abnormalities, such as DD/ID.