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.
Highlights
Chromosomal aberrations are one of the most common causes of mental retardation (MR)
A cytogenetic study was conducted on 50 MR patients with unknown origins who resided at a charity center for mentally and psychiatrically disabled patients in Hamadan, Iran, during 2014 and 2015
With a prevalence of 2% - 3% in the population, mental retardation is a heterogeneous disorder defined by an intelligence quotient (IQ) of less than 70 [1]
Summary
Chromosomal aberrations are one of the most common causes of mental retardation (MR). 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. 2% 3%), the limited availability of therapeutic options, and the resultant life-long implications for the affected persons, their families, and society as a whole [1,2,3]. The severity of this mental abnormality is typically classified as either mild, intermediate, severe, or deep according to an IQ test. Numerical and structural abnormalities are responsible for about 4–28% of all mental retardation, and they are found in almost 40% of severe MR and 10% of the mild type [7, 8]. No approved treatment is currently available for repairing genetic defects, the correct diagnosis of the etiological sources of these defects should be considered [12]
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