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What is ECARUCA?

ECARUCA is a European-based database, that collects cytogenetic and clinical data of rare chromosomal aberrations from (cyto)genetic centres in Europe and the rest of the world. Many ECARUCA accountholders are also member of the European Cytogeneticists Association (ECA).

During recent years there has been an enormous improvement in diagnostic techniques, enabling cytogeneticists to find more and smaller chromosomal aberrations. However, accurate clinical knowledge about rare chromosome disorders is frequently lacking, as a considerable percentage of cases remains unpublished.

The resulting gap in clinical knowledge is in sharp contrast with the increasing demand from parents and physicians for reliable information on the disorder of their child or patient.

These facts illustrate the need to collect (non-) published cases
with a rare chromosomal aberration, including detailed clinical

History of ECARUCA

The European Cytogeneticists Association initiated this project, and a Permanent Working Group under the supervision of professor A. Schinzel from Zurich established the feasibility of a database.
The project was started by C. Evans (London), C. van Ravenswaaij (Nijmegen), A. Schinzel (Zurich), B. de Vries (Nijmegen) and R. Winter (London)†.

The development of the ECARUCA project was funded by grants of the European Union Fifth Framework Programme (The quality of life and management of living resources) from 2003 until 2005.