John, NeethaRajasekhar, MokaGirisha, Katta MohanSharma, Podila Satya Venkata NarasimhaGopinath, Puthiya Mundyat2013-11-202013-11-202013-04John Neetha, Rajasekhar Moka, Girisha Katta Mohan, Sharma Podila Satya Venkata Narasimha, Gopinath Puthiya Mundyat. Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India. Indian Journal of Human Genetics. 2013 Apr; 19(2): 165-170.http://imsear.searo.who.int/handle/123456789/149424BACKGROUND: Mental 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 METHODS: A 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. RESULTS: All 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. CONCLUSION: Karyotype analysis in combination with MLPA assays for submicroscopic micro-deletions may be recommended for children with idiopathic MR.enDevelopmental delaymental retardationmicro-deletionsmultiplex ligation dependent probe amplificationSH3 and multiple ankyrin repeat domains 3AdolescentChildChild, PreschoolChromosome DeletionDevelopmental Disabilities --geneticsFemaleHumansIndia --epidemiologyIntellectual Disability --epidemiologyIntellectual Disability --geneticsMaleMultiplex Polymerase Chain ReactionNerve Tissue Proteins --geneticsSequence DeletionArticle