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- Title
Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability.
- Authors
Miclea, Diana; Szucs, Adriana; Mirea, Andreea; Stefan, Delia-Maria; Nazarie, Florina; Bucerzan, Simona; Lazea, Cecilia; Grama, Alina; Pop, Tudor Lucian; Farcas, Marius; Zaharie, Gabriela; Matyas, Melinda; Snr, Monica Mager; Vintan, Mihaela; Popp, Radu; Alkhzouz, Camelia
- Abstract
Background: Genetic testing has become a standardized practice in the diagnosis of patients with global developmental delay/intellectual disability (GDD/ID). The aim of this study is to observe the frequency of recurrent copy number variations (CNVs) in patients diagnosed with GDD/ID, using MLPA technique. Methods: A total of 501 paediatric patients with GDD/ID were analysed using SALSA MLPA probemix P245 Microdeletion Syndromes-1A, and the technical steps were performed according to the MRC Holland MLPA general protocol. Results: Twenty-five of 501 patients (5%) were diagnosed with a microdeletion/microduplication syndrome. Amongst them, 7 of 25 (30%) with clinical suggestion have a confirmed diagnosis, for the other cases the clinical features were not evocative for a specific syndrome. Conclusion: This study showed that in cases with a specific clinical diagnosis the MLPA technique could be a useful alternative, less expensive and more efficient to indicate as first intention of a targeted diagnostic test, as it is the case of Williams syndrome, Prader–Willi syndrome or DiGeorge syndrome.
- Subjects
NETHERLANDS; DNA copy number variations; DEVELOPMENTAL delay; DIGEORGE syndrome; CHILD patients; PRADER-Willi syndrome; INTELLECTUAL disabilities
- Publication
International Journal of General Medicine, 2021, Vol 14, p4511
- ISSN
1178-7074
- Publication type
Case Study
- DOI
10.2147/IJGM.S320033