title: An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.
abstract: The European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA, www.ecaruca.net) is an online database initiated in 2003 that collects and provides detailed, curated clinical and molecular information on rare unbalanced chromosome aberrations. ECARUCA now contains over 4800 cases with a total of more than 6600 genetic aberrations and has over 3000 account holders worldwide. Recently, the ECARUCA web site was renewed, including the presentation of interesting case reports in collaboration with the European Journal of Medical Genetics. This article gives an overview of the current status and future plans of the online ECARUCA database.
authors.affiliation: Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Anneke T
authors.initials: AT
authors.lastname: Vulto-van Silfhout
authors.forename: Conny M A
authors.initials: CM
authors.lastname: van Ravenswaaij
authors.forename: Jayne Y
authors.initials: JY
authors.lastname: Hehir-Kwa
authors.forename: Eugène T P
authors.initials: ET
authors.lastname: Verwiel
authors.forename: Rita
authors.initials: R
authors.lastname: Dirks
authors.forename: Steven
authors.initials: S
authors.lastname: van Vooren
authors.forename: Albert
authors.initials: A
authors.lastname: Schinzel
authors.forename: Bert B A
authors.initials: BB
authors.lastname: de Vries
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
mesh_terms: D002869:Chromosome Aberrations; D030561:Databases, Nucleic Acid; D005060:Europe; D015894:Genome, Human; D006801:Humans; D009862:Online Systems; D012042:Registries
keywords: Array; Copy number variant; Database; ECARUCA; European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations; LDDB; Unbalanced chromosome aberration; Winter-Baraitser London Dysmorphology DataBase