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Submitted: 04 May 2016
Revision: 15 Jun 2016
Accepted: 21 Jun 2016
ePublished: 03 Aug 2016
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Avicenna J Med Biochem. 2016;4(2): 10.
doi: 10.17795/ajmb-38956
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  PDF Download: 1171
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Research Article

Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

Katayoon Etemadi 1 *

1 Department of Molecular Medicine and Genetic, Hamadan University of Medical Sciences, Hamadan, IR Iran
*Corresponding author: Katayoon Etemadi, Department of Molecular Medicine and Genetic, Hamadan University of Medical Sciences, Hamadan, IR Iran. Katayoon_Etemadi@yahoo.com

Abstract

Background: Chromosomal aberrations are one of the most common causes of mental retardation (MR).

Objectives: In this study, in order to identify the rate of chromosomal abnormalities in idiopathic MR, 50 MR patients at a charity center in Hamadan, Iran, were investigated.

Methods: Fifty mentally retarded male patients without specific chromosomal abnormalities (e.g., Down syndrome, Fragile X syndrome, and Klinefelter syndrome) were included in the study. Standard cytogenetic techniques and high resolution GTG banding were performed on all the patients.

Results: All the patients were male, with a mean age of 37.12 years. Skeletal and facial abnormalities were found in 8% and 22% of patients, respectively. All the patients showed a moderate to severe level of mental retardation. None of the patients had numerical chromosome abnormalities. Twoout of the 50 patients (4%) demonstrated structural chromosomal abnormalities. One patient had a paracentric inversion in chromosome 1, while the other had a pericentric inversion in chromosome 2.

Conclusions: The presence of structural chromosomal abnormalities (4%) in the studied MR patient population emphasizes the importance of cytogenetic investigation for all idiopathic MR patients.

Keywords: Idiopathic Mental Retardation, Chromosome Abnormality, GTG Banding
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Abstract View: 1143

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