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Welcome to C17, a support and advocacy organization dedicated to Chromosome 17 abnormalities. If you are searching for information related to Chromosome 17 abnormalities, then you have come to the right place. We hope that through our site people will share their experiences and information related to Chromosome 17 disorders. Through us all working together, the possibilities are endless. We are all here as parents, caregivers and medical professionals to support, educate and give guidance to all affected individuals. Please feel free to browse our site and join our forum. We hope that you find the answers you are looking for. The permanent address is www.chromo17.com. Please remember to bookmark this site for easy access.

C17 News

David A. Koolen and colleagues are investigating the genetic causes and symptoms associated with 17q21.31 microdeletion syndrome.

Participation in this study involves collecting medical information, photos, and gathering as much information as possible.  In addition, they have some more fundamental questions to solve, that is, what is /are the genes (s) responsible for the problems in our children?  In order to answer this question they would like to collect EBV cell-lines of the children with 17q21.31 microdeletion syndrome (two blood samples) and if possible of the parents.  With these cells they can try to look for the differences in gene expression, which might give us a clue of the “disease”-mechanism.

If you are interested in participating in this study please contact Jacqueline Robertson at info@chromo17.com , or you may have your medical doctor contact Jacqueline for David A. Koolens direct contact information.

They would like to start the study soon and hope we will get some results soon as well.