European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities
European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities
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DOI：
10.1016/j.ejmg.2005.10.131
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发表时间：
2006-07-01
影响因子：
1.9
通讯作者：
Schinzel, A.
中科院分区：
文献类型：
--
作者：
Feenstra, I.;Fang, J.;Schinzel, A.
近年来，诊断技术的显著进步使细胞遗传学家能够发现更多和更小的染色体异常。然而，关于罕见染色体疾病的准确临床知识经常缺乏，主要是由于可发表病例的显著减少。另一方面，父母和医生对可靠信息的需求也越来越大：为了提高可用数据的质量和数量，我们在http://www.ecaruca.net.上设计了一个新的数据库，名为欧洲细胞遗传学家协会不平衡染色体畸变登记这个互联网数据库包含罕见染色体异常患者的细胞遗传学和临床数据，包括显微镜下可见的异常以及微缺失和重复。在苏黎世细胞遗传学数据库中收集的具有特定断点的病例被转移到ECARUCA。与现有来源相比，ECARUCA的优势在于ECARUCA是交互式的、动态的，并具有存储细胞遗传学、分子和临床数据的长期可能性。专业人员可以登录提交新的案件，并通过互联网在数据库中进行搜索。目前，该数据库包含来自近4000名患者的1500个独特的染色体异常。频繁提交的新数据确保了收集的最新质量。父母个人账户允许父母告知-ECARUCA团队关于他们孩子的后续行动。ECARUCA数据库为医护人员提供有关罕见染色体疾病临床方面的准确信息。此外，染色体异常及其表型之间的详细相关性对定位智力低下和先天性异常的基因有非常重要的帮助。(C)2005年爱思唯尔集团。版权所有。
During recent years a considerable improvement in diagnostic techniques has enabled cytogeneticists to find more and smaller chromosomal aberrations. However, accurate clinical knowledge about rare chromosome disorders is frequently lacking, mostly due to a significant decline in publishable cases. On the other hand, there is an increasing demand from parents and physicians for reliable information: In order to improve the quality and the quantity of data available, we designed a new database named the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA) at http://www.ecaruca.net. This Internet-database contains cytogenetic and clinical data of patients with rare chromosome abnormalities, including microscopically visible aberrations, as well as microdeletions and -duplications. Cases with certain breakpoints collected in the Zurich Cytogenetic Database were transferred to ECARUCA. The advantages of ECARUCA compared to existing sources are that ECARUCA is interactive, dynamic and has long-term possibilities to store cytogenetic, molecular and clinical data. Professionals can login to submit new cases and perform searches in the database through the Internet. Currently the database contains 1500 unique chromosomal aberrations from almost 4000 patients. A frequent submission of new data ensures the up-to-date quality of the collection. Individual parent accounts allow parents to inform-the ECARUCA team about the follow-up of their child. The ECARUCA database provides health care workers with accurate information on clinical aspects of rare chromosome disorders. Additionally, detailed correlations between chromosome aberrations and their phenotypes are of invaluable help in localising genes for mental retardation and congenital anomalies. (c) 2005 Elsevier SAS. All rights reserved.