Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation
| Autor: | Minal Borkar, Shubha R. Phadke, Kausik Mandal, Suraksha Agarwal, Vijay Raju Boggula |
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| Rok vydání: | 2009 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Adolescent Developmental Disabilities India Age Distribution Gene Duplication Intellectual Disability medicine Confidence Intervals Odds Ratio Humans Multiplex Copy-number variation Multiplex ligation-dependent probe amplification Genetic Testing Prospective Studies Sex Distribution Child In Situ Hybridization Fluorescence Probability Genetics business.industry Medical screening Incidence Infant Telomere Subtelomere Child Preschool Pediatrics Perinatology and Child Health Female business Nucleic Acid Amplification Techniques Gene Deletion Follow-Up Studies |
| Zdroj: | Indian journal of pediatrics. 76(10) |
| ISSN: | 0973-7693 |
| Popis: | To detect subtelomeric copy number variations (deletions and duplications) using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique in children with idiopathic mental retardation.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.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.MLPA for subtelomeric regions is recommended for evaluation of children with idiopathic mental retardation/ global developmental delay were included in the study. |
| Databáze: | OpenAIRE |
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