The C6P collects phenotype information (clinical characteristics, development, behaviour, and appearance of an individual) on all different chromosome 6 aberrations (deletions and duplications) directly from individuals or their parents from all over the world. The genotype of these individuals is also collected (copies of microarray reports). The goal of this research project is to provide parents (and healthcare professionals) with tailored phenotype information associated with a specific chromosome 6 deletion or duplication. Currently, parents of 248 children have completed the online questionnaire and submitted a microarray report. The parents in a test panel came from six countries: Australia, Canada, Ireland, New Zealand, the United Kingdom, and the United States of America.

Recruitment is ongoing