title: Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India.
abstract: BACKGROUND
  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.
  
  
  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.
  
  
  CONCLUSIONS
  Karyotype analysis in combination with MLPA assays for submicroscopic micro-deletions may be recommended for children with idiopathic MR.
authors.affiliation: Division of Biotechnology, Manipal Life Sciences Centre, Manipal University, Manipal, Karnataka, India.
authors.forename: Neetha
authors.initials: N
authors.lastname: John
authors.forename: Moka
authors.initials: M
authors.lastname: Rajasekhar
authors.forename: Katta Mohan
authors.initials: KM
authors.lastname: Girisha
authors.forename: Podila Satya Venkata Narasimha
authors.initials: PS
authors.lastname: Sharma
authors.forename: Puthiya Mundyat
authors.initials: PM
authors.lastname: Gopinath
keywords: Developmental delay; SH3 and multiple ankyrin repeat domains 3; mental retardation; micro-deletions; multiplex ligation dependent probe amplification
references.citation: Nucleic Acids Res. 2002 Jun 15;30(12):e57
references.pmid: 12060695
references.citation: Am J Med Genet A. 2005 Aug 30;137(2):228-31
references.pmid: 16086396
references.citation: Br Med Bull. 1996 Jul;52(3):453-64
references.pmid: 8949249
references.citation: Genet Med. 2010 Sep;12(9):573-86
references.pmid: 20860070
references.citation: Trends Neurosci. 1999 May;22(5):197-207
references.pmid: 10322491
references.citation: Lancet. 2003 Apr 12;361(9365):1281-9
references.pmid: 12699967
references.citation: Nat Genet. 2007 Jan;39(1):25-7
references.pmid: 17173049
references.citation: Lancet. 2007 Oct 20;370(9596):1443-52
references.pmid: 17950858
references.citation: Hum Mutat. 2004 Jan;23(1):17-21
references.pmid: 14695528
references.citation: Am J Hum Genet. 2010 Aug 13;87(2):229-36
references.pmid: 20691406
references.citation: Am J Med Genet A. 2007 Mar 15;143A(6):610-4
references.pmid: 17318845
references.citation: Mol Cytogenet. 2010 Oct 13;3:19
references.pmid: 20942916
references.citation: Am J Med Genet. 1997 Nov 12;72(4):468-77
references.pmid: 9375733
references.citation: Pediatrics. 2006 Jun;117(6):2304-16
references.pmid: 16740881
references.citation: Ital J Pediatr. 2010 Feb 14;36:17
references.pmid: 20152051
references.citation: J Med Genet. 2001 Mar;38(3):145-50
references.pmid: 11238680
references.citation: Int J Mol Sci. 2012;13(3):3245-76
references.pmid: 22489151
references.citation: Eur J Hum Genet. 2005 Jan;13(1):6-25
references.pmid: 15523501
references.citation: Exp Cell Res. 1960 Sep;20:613-6
references.pmid: 13772379
references.citation: Genet Med. 2010 Mar;12(3):135-44
references.pmid: 20071995