TAILIEUCHUNG - Báo cáo y học: " Copy number variation goes clinical"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: Copy number variation goes clinical. | Meeting report Copy number variation goes clinical Cédric Le Caignec and Richard Redon Addresses CHU de Nantes Service de Génétique Médicale 44093 Nantes France. ỲINSERM UMR915 1 Institut du Thorax 44093 Nantes France. The Wellcome Trust Sanger Institute Hinxton Cambridge CB10 1SA UK. Correspondence Cédric Le Caignec. Email Published 23 January 2009 Genome Biology2009 10 301 doi gb-2009-l0-l-30l The electronic version of this article is the complete one and can be found online at http 2009 l0 l 30l 2009 BioMed Central Ltd A report of the First Golden Helix Symposium Copy Number Variation CNV and Genomic Alterations in Health and Disease Athens Greece 28-29 November 2008. Since its development in the late 1990s microarray-based comparative genomic hybridization aCGH has been widely used to screen for copy-number changes at high resolution across whole genomes. It has quickly become a reference method for the diagnosis of patients with severe developmental defects and has been instrumental in the discovery of a new abundant source of polymorphism in the human genome called DNA copy number variation CNV . Here we report some highlights of the First Golden Helix Symposium focusing on the latest advances in the rapidly evolving field of research on CNV. CNV is a major cause of chromosomal disorders in patients Chromosomal imbalances are a major known cause of learning disability and developmental defects. A standard karyotype can only detect chromosomal imbalances deletions and duplications larger than 5 Mb whereas aCGH is able to detect cryptic chromosomal imbalances that are not detectable by standard cytogenetic analysis. Since the recent implementation of aCGH in clinical diagnosis large numbers of patients have been tested worldwide and genomic copy number alterations have been detected in around 10-15 of such patients with apparently normal karyotypes. Pawel Stankiewicz Baylor College of Medicine Houston USA

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