ArticleIndian journal of human genetics2013
Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India.
Article in Indian journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.Journal of pediatric genetics · 2024Article
- Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability.International journal of general medicine · 2021Article
- Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescenceThe Indian journal of medical research · 2016Article
- Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification.Journal of genetics · 2016Article
- Molecular aberration studies in cases of idiopathic mental retardation: An update.Indian journal of human genetics · 2013Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMental retardation (MR) is a heterogeneous dysfunction of the central nervous system exhibiting complex phenotypes and has an estimated prevalence of 1-3% in the general population. However, in about 50% of the children diagnosed with any form of intellectual disability or developmental delay the cause goes undetected contributing to idiopathic intellectual disability. MATERIALS AND
methodsA total of 122 children with developmental delay/MR were studied to identify the microscopic and submicroscopic chromosome rearrangements by using the conventional cytogenetics and multiplex ligation dependent probe amplification (MLPA) analysis using SALSA MLPA kits from Microbiology Research Centre Holland [MRC] Holland.
resultsAll the recruited children were selected for this study, after thorough clinical assessment and metaphases prepared were analyzed by using automated karyotyping system. None was found to have chromosomal abnormality; MLPA analysis was carried out in all subjects and identified in 11 (9%) patients.
conclusionKaryotype analysis in combination with MLPA assays for submicroscopic micro-deletions may be recommended for children with idiopathic MR.
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