Use of multiplex ligation-dependent probe amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation.

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dc.contributor.authorMandal, Kausik
dc.contributor.authorBoggula, Vijay R
dc.contributor.authorBorkar, Minal
dc.contributor.authorAgarwal, Suraksha
dc.contributor.authorPhadke, Shubha
dc.date.accessioned2012-10-23T08:41:33Z
dc.date.available2012-10-23T08:41:33Z
dc.date.issued2009-10
dc.description.abstractObjective. To detect subtelomeric copy number variations (deletions and duplications) using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique in children with idiopathic mental retardation. Methods. All children presenting to the genetics out-patient department for evaluation of mental retardation or developmental delay over a period of two years, for whom no identifiable cause could be found by clinical evaluation, karyotyping, neuroimaging and other relevant investigations. Results. In the present study, two cases deletions and one case of duplication were detected amongst 65 cases with idiopathic mental retardation/ global developmental delay. The overall detection rate is 4.6%. The detection rate is higher (13%) in children with facial dysmorphism. Conclusion. MLPA for subtelomeric regions is recommended for evaluation of children with idiopathic mental retardation/ global developmental delay were included in the study.en_US
dc.identifier.citationMandal Kausik, Boggula Vijay R, Borkar Minal, Agarwal Suraksha, Phadke Shubha. Use of multiplex ligation-dependent probe amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation. Indian Journal of Pediatrics. 2009 Oct; 76(10): 1027-1031.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/142398
dc.language.isoenen_US
dc.source.urihttps://medind.nic.in/icb/t09/i10/icbt09i10p1027.pdfen_US
dc.subjectMental retardationen_US
dc.subjectEtilogyen_US
dc.subjectSubtelomeresen_US
dc.subjectMLPAen_US
dc.subject.meshAdolescent
dc.subject.meshAge Distribution
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshConfidence Intervals
dc.subject.meshDevelopmental Disabilities --diagnosis
dc.subject.meshDevelopmental Disabilities --epidemiology
dc.subject.meshDevelopmental Disabilities --genetics
dc.subject.meshFemale
dc.subject.meshFollow-Up Studies
dc.subject.meshGene Deletion
dc.subject.meshGene Duplication
dc.subject.meshGenetic Testing --methods
dc.subject.meshHumans
dc.subject.meshIn Situ Hybridization, Fluorescence
dc.subject.meshIncidence
dc.subject.meshIndia
dc.subject.meshInfant
dc.subject.meshIntellectual Disability --diagnosis
dc.subject.meshIntellectual Disability --epidemiology
dc.subject.meshIntellectual Disability --genetics
dc.subject.meshMale
dc.subject.meshNucleic Acid Amplification Techniques --methods
dc.subject.meshOdds Ratio
dc.subject.meshProbability
dc.subject.meshProspective Studies
dc.subject.meshSex Distribution
dc.subject.meshTelomere --genetics
dc.titleUse of multiplex ligation-dependent probe amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation.en_US
dc.typeArticleen_US
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