title: Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation.
abstract: 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.
  
  
  OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Farkhondeh
authors.initials: F
authors.lastname: Behjati
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Saghar
authors.initials: S
authors.lastname: Ghasemi Firouzabadi
authors.affiliation: Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Firoozeh
authors.initials: F
authors.lastname: Sajedi
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Mostafa
authors.initials: M
authors.lastname: Najafi
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Behruz
authors.initials: B
authors.lastname: Ebrahimizade Ghasemlou
authors.affiliation: Sarem Cell Research Center, Sarem Hospital, Tehran, IR Iran ; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Yousef
authors.initials: Y
authors.lastname: Shafeghati
authors.affiliation: Department of Occupational Therapy, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Behnia
authors.affiliation: University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Ali Reza
authors.initials: AR
authors.lastname: Mohammadi Arya
authors.affiliation: Zafar Rehabilitation Clinic, Tehran, IR Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Karimi
authors.affiliation: Sarem Cell Research Center, Sarem Hospital, Tehran, IR Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Hadipour
authors.affiliation: Sarem Cell Research Center, Sarem Hospital, Tehran, IR Iran.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Hadipour
authors.affiliation: Shahroud Welfare Organization, Shahroud, IR Iran.
authors.forename: Peyman
authors.initials: P
authors.lastname: Jamali
authors.affiliation: Pathology and Genetics Center, Tehran, IR Iran.
authors.forename: Roxana
authors.initials: R
authors.lastname: Kariminejad
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Darvish
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Ideh
authors.initials: I
authors.lastname: Bahman
authors.affiliation: Sarem Cell Research Center, Sarem Hospital, Tehran, IR Iran.
authors.forename: Eiman
authors.initials: E
authors.lastname: Bagherizadeh
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.affiliation: Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IR Iran.
authors.forename: Roshanak
authors.initials: R
authors.lastname: Vameghi
keywords: Hypersomnolence Idiopathic; Ligation; Mental Retardation