European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations


Welcome to ECARUCA, a database which collects and provides cytogenetic and clinical information on rare chromosomal disorders, including microdeletions and microduplications.

ECARUCA aims to be a database that is easily accessible for all participants and encourages information exchange as well as exchange of technical knowledge.

ECARUCA wants to improve patient care and collaboration between genetic centres in the field of clinical cytogenetics.

ECARUCA collects the results of cytogenetic research & the accompanying clinical features, but NOT the patient material used for the analysis; this stays in the centre where the research was carried out.


Currently the microarray data in ECARUCA is stored based on probe IDs which map to genomic locations either in hg17, hg18 or hg19 depending on the microarray platform used. Please take this into account when searching the database via base position.

View all ECARUCA cases smaller than 30Mb in one of the following Genome Browsers:

Acknowledgements:

  • We would specifically like to thank Professor Albert Schinzel and his team in Zürich, Switzerland, for their outstanding contribution to the ECARUCA database. Their data is the foundation on which the database is being built and Professor Schinzel and his team continue to contribute a large number of cases to the ECARUCA database.
  • We would also like to record our appreciation of Professor Robin Winter (1950-2004) and Dr Michael Baraitser for allowing us to use their search strategy, based on the Winter-Baraitser Dysmorphology Database (WBDD) of the London Medical Databases, to query the ECARUCA database.