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Avicenna Journal of Medical Biochemistry، جلد ۴، شماره ۲، صفحات ۰-۰
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| عنوان فارسی |
Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran |
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| چکیده فارسی مقاله |
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. Two out 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. |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran |
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| چکیده انگلیسی مقاله |
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. Two out 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. |
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| نویسندگان مقاله |
کتایون اعتمادی | katayoon etemadi
department of molecular medicine and genetic, hamadan university of medical sciences, hamadan, ir iran; department of molecular medicine and genetic, hamadan university of medical sciences, hamadan, ir iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی همدان (Hamadan university of medical sciences)
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| نشانی اینترنتی |
http://www.avicennajb.com/index.php?page=article&article_id=38956 |
| فایل مقاله |
فایلی برای مقاله ذخیره نشده است |
| کد مقاله (doi) |
10.17795/ajmb-38956 |
| زبان مقاله منتشر شده |
fa |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
research-article |
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