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[Multiplex ligation-dependent probe amplification for detecting submicroscopic chromosomal abnormalities in Chinese children with global developmental delay or intellectual disability].
- Source :
-
Zhonghua yi xue za zhi [Zhonghua Yi Xue Za Zhi] 2014 Aug 26; Vol. 94 (32), pp. 2514-8. - Publication Year :
- 2014
-
Abstract
- Objective: 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).<br />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 P036 and P070 for sub-telomere screening and SALSA P245 for 22 common microdeletion and microduplication syndromes.<br />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.<br />Conclusion: MLPA is an effective cytogenetic diagnostic tool for detecting chromosomal abnormalities, such as DD/ID.
Details
- Language :
- Chinese
- ISSN :
- 0376-2491
- Volume :
- 94
- Issue :
- 32
- Database :
- MEDLINE
- Journal :
- Zhonghua yi xue za zhi
- Publication Type :
- Academic Journal
- Accession number :
- 25410923