کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9935787 | 1569553 | 2005 | 18 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Molecular karyotyping in human constitutional cytogenetics
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
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چکیده انگلیسی
Using array CGH it is possible to detect very small genetic imbalances anywhere in the genome. Its usefulness has been well documented in cancer and more recently in constitutional disorders. In particular it has been used to detect interstitial and subtelomeric submicroscopic imbalances, to characterize their size at the molecular level and to define the breakpoints of chromosomal translocation. Here, we review the various applications of array CGH in constitutional cytogenetics. This technology remains expensive and the existence of numerous sequence polymorphisms makes its interpretation difficult. The challenge today is to transfer this technology in the clinical setting.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 48, Issue 3, JulyâSeptember 2005, Pages 214-231
Journal: European Journal of Medical Genetics - Volume 48, Issue 3, JulyâSeptember 2005, Pages 214-231
نویسندگان
Damien Sanlaville, Jean-Michel Lapierre, Catherine Turleau, Aurélie Coquin, Guntram Borck, Laurence Colleaux, Michel Vekemans, Serge Pierrick Romana,