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Ideopathic mental retardation and dysmorphism: Karyotypic and UPD analysis

Idiopathic mental retardation patients with various degrees and types of dysmorphisms and Uniparental disomy were studied for Karyotyping, microarray and whole exome sequencing in order to find correlation between genotype and phenotype with improved sensitivity. We have reported genetic aberration in cases of intellectual disability in 4 out of 8 idiopathic cases and cause of multiple spontaneous abortions in a mother using customized methodological approaches. The findings are reported in journals.