Author/Authors :
Behjati, Farkhondeh University of Social Welfare and Rehabilitation Sciences, Tehran , Ghasemi Firouzabadi, Saghar University of Social Welfare and Rehabilitation Sciences, Tehran , Sajedi, Firoozeh University of Social Welfare and Rehabilitation Sciences, Tehran , Kahrizi, Kimia University of Social Welfare and Rehabilitation Sciences, Tehran , Najafi, Mostafa University of Social Welfare and Rehabilitation Sciences, Tehran , Ebrahimizade Ghasemlou, Behruz University of Social Welfare and Rehabilitation Sciences, Tehran , Shafeghati, Yousef University of Social Welfare and Rehabilitation Sciences, Tehran , Behnia, Fatemeh Department of Occupational Therapy - University of Social Welfare and Rehabilitation Sciences, Tehran , Mohammadi Arya, Ali Reza University of Social Welfare and Rehabilitation Sciences, Tehran , Karimi, Hossein Zafar Rehabilitation Clinic, Tehran , Hadipour, Fatemeh Sarem Hospital, Tehran , Hadipour, Zahra Sarem Hospital, Tehran , Jamali, Peyman Shahroud Welfare Organization, Shahroud , Kariminejad, Roxana , Darvish, Hossein Department of Medical Genetics - Shahid Beheshti University of Medical Sciences, Tehran , Bahman, Ideh University of Social Welfare and Rehabilitation Sciences, Tehran , Bagherizadeh, Eiman Sarem Hospital, Tehran , Najmabadi, Hossein University of Social Welfare and Rehabilitation Sciences, Tehran , Vameghi, Roshanak University of Social Welfare and Rehabilitation Sciences, Tehran
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. 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.
