International Journal of Molecular and Cellular Medicine، جلد ۵، شماره ۳، صفحات ۱۲۵-۱۳۳
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عنوان انگلیسی Down Syndrome: Current Status, Challenges and Future Perspectives
چکیده انگلیسی مقاله Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features. These advances in turn may help to develop targeted therapy for persons with trisomy 21. Screening for DS is an important part of routine prenatal care. Until recently, noninvasive screening for aneuploidy depends on the measurement of maternal serum analytes and ultrasonography. More recent progress has resulted in the development of noninvasive prenatal screening (NIPS) test using cell-free fetal DNA sequences isolated from a maternal blood sample. A review on those achievements is discussed.
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله محمد کاظمی | mohammad kazemi
department of genetics and molecular biology, school of medicine, isfahan university of medical sciences, isfahan, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)
سازمان های دیگر: Pediatric Inherited Diseases Research Center, Re |search Institute for Primordial Prevention of Non- | Pediatric Inherited Diseases Research Center, Re |search Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical | Sciences, Isfahan, Iran.

منصور صالحی | mansoor salehi
medical genetic center of genome, isfahan, iran.

سازمان های دیگر: Pediatric Inherited Diseases Research Center, Re |search Institute for Primordial Prevention of Non- | Pediatric Inherited Diseases Research Center, Re |search Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical | Sciences, Isfahan, Iran.

مجید خیرالهی | majid kheirolahi
pediatric inherited diseases research center, research institute for primordial prevention of non-communicable disease, isfahan university of medical sciences, isfahan, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)
سازمان های دیگر: Pediatric Inherited Diseases Research Center, Re |search Institute for Primordial Prevention of Non- | Pediatric Inherited Diseases Research Center, Re |search Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical | Sciences, Isfahan, Iran.

نشانی اینترنتی http://www.ijmcmed.org/browse.php?a_code=A-10-781-1&slc_lang=en&sid=en
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زبان مقاله منتشر شده en
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