Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

Background Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age. Objectives The purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 selected patients with idiopathic mental retardation (IMR) in Iran. Materials and Methods A number of 100 patients with IMR, normal karyotypes and negative fragile-X and metabolic tests were screened for subtelomeric abnormalities using MLPA technique. Results Nine of 100 patients showed subtelomeric abnormalities with at least one of the two MLPA kits. Deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. Duplication was only single and was present in 2 patients. Three patients were found to have both a deletion and duplication.MLPA testing in the parental samples of 7 patients which was accessible showed that 4 patients were de novo, 2 patients had inherited from a clinically normal mother, and one had inherited from a clinically normal father. Screening with the two MLPA kits (SALSA P036 and SALSA P070) proved abnormality in only five of the 9 patients. Conclusions So, the prevalence rate of abnormal subtelomeres using MLPA technique in patients with idiopathic MR in our study was 5 - 9%, the higher limit referring to the positive results of one of the two MLPA kits, and the lower limit representing the results of positive double-checking with the two MLPA kits.

• Publication year

  2013

• Venue

  Iranian Red Crescent Medical Journal

• Publication date

  2013-10-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.5812/ircmj.8221PMID 24693374PMCID 3950786
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

  2011cited by this paper
• Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

  2010cited by this paper
• Genetics of early onset cognitive impairment.

  2010cited by this paper
• Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements.

  2008cited by this paper
• Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

  2008cited by this paper
• Cryptic telomere imbalance: A 15‐year update

  2007cited by this paper
• MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation

  2006cited by this paper
• FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype.

  2005cited by this paper
• American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

  2005cited by this paper
• Functional variants of the lipoprotein lipase gene and the risk of preeclampsia among non‐Hispanic Caucasian women

  2005cited by this paper
• Multiplex ligation‐dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics

  2005cited by this paper
• Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

  2004cited by this paper
• Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation‐dependent probe amplification (MLPA)

  2004cited by this paper
• Advances in molecular cytogenetics for the evaluation of mental retardation

  2003cited by this paper
• The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation.

  2003cited by this paper
• The epidemiology of mental retardation: challenges and opportunities in the new millennium.

  2002cited by this paper
• Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH

  2001cited by this paper
• Outcome of the routine assessment of patients with mental retardation in a genetics clinic.

  2000cited by this paper
• Subtle chromosomal rearrangements in children with unexplained mental retardation.

  1999cited by this paper
• Subtle chromosomal rearrangements in children with unexplained mental retardation

  1999cited by this paper
• The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

  1995cited by this paper
• The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter.

  1995cited by this paper
• A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination.

  1995cited by this paper
• Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors.

  1992cited by this paper
• Structure and polymorphism of human telomere-associated DNA.

  1990cited by this paper
• Further studies on bivalent chiasma frequency in human males with normal karyotypes

  1985cited by this paper

• Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications

  2016cites this paper
• Review of Structural Social Determinants of Health in Early Childhood Development

  2015cites this paper
• Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder

  2015cites this paper
• Investigação da variação no número de cópias genômicas (CNVs) em pacientes com anomalias congênitas e atraso de desenvolvimento neuropsicomotor (ADNPM) pela técnica de MLPA (Multiplex Ligation-dependent Probe Amplification)

  2014cites this paper