Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India.

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dc.contributor.authorJohn, Neetha
dc.contributor.authorRajasekhar, Moka
dc.contributor.authorGirisha, Katta Mohan
dc.contributor.authorSharma, Podila Satya Venkata Narasimha
dc.contributor.authorGopinath, Puthiya Mundyat
dc.date.accessioned2013-11-20T07:15:19Z
dc.date.available2013-11-20T07:15:19Z
dc.date.issued2013-04
dc.description.abstractBACKGROUND: 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.en_US
dc.identifier.citationJohn 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.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/149424
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758722/?report=classicen_US
dc.subjectDevelopmental delayen_US
dc.subjectmental retardationen_US
dc.subjectmicro-deletionsen_US
dc.subjectmultiplex ligation dependent probe amplificationen_US
dc.subjectSH3 and multiple ankyrin repeat domains 3en_US
dc.subject.meshAdolescent
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshChromosome Deletion
dc.subject.meshDevelopmental Disabilities --genetics
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshIndia --epidemiology
dc.subject.meshIntellectual Disability --epidemiology
dc.subject.meshIntellectual Disability --genetics
dc.subject.meshMale
dc.subject.meshMultiplex Polymerase Chain Reaction
dc.subject.meshNerve Tissue Proteins --genetics
dc.subject.meshSequence Deletion
dc.titleMultiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India.en_US
dc.typeArticleen_US
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