Who are we?

What happens when you find out that your child has a defect on chromosome 12? What does the future hold? Unfortunately, it is such a rare occurrence that there is no medical information and research available. There is, therefore, very limited help, guidance and knowledge out there.

Stichting 12q is committed to funding research into chromosome 12q abnormalities; not only medically, but also looking at prognosis, support, and guidance for parents. We would ultimately like to be able to provide a treatment plan for any family affected by chromosome 12q abnormalities, just like with other syndromes. This remains one of Stichting 12q’s main goals.

The research

Thanks to our wonderful sponsors and donors, Erasmus Medical Centre in Rotterdam has recently begun a 4-year PhD course researching chromosome 12q abnormalities. A medical article has now been published, also thanks to the money raised for the foundation. Please click here to read the full article.

The PhD research is an extensive and lengthy process. Broadly speaking, the following steps are taken:

  • Step one is to include as many patients as possible in the research. Patients are invited for an extensive interview and examination by the Department of Clinical Genetics in Erasmus MC.
  • Step two involves mapping the missing genes that are associated with health problems, and also mapping those that are not. Furthermore, variants within these genes that have been found in the patients are researched. This can lead to identifying new syndromes.
  • Step three focuses on a selection of gene variants in order to map how changes in these genes could lead to other diseases.
  • The result of this research will undoubtedly provide more insight into abnormalities on chromosome 12q. Ultimately, this will contribute to more specific care and treatment options for patients with 12q deletions.

What can you do to help?

Support via a business or company. Many companies are associated with a specific charity. It is good for PR, can be tax-deductible and it’s helping a good cause. Win-win! Stichting 12q has ANBI status.


It is possible to transfer a tax-deductible donation to Stichting 12q. If you would like more information about this, please send an email and we will contact you shortly.


There are regular events organised to raise money for the foundation. It is also possible to sponsor us simply though use of your logo on our website for example. Please get in contact for more information. If you want to stay informed about our sponsorship opportunities, sign up here for our updates. If you have any other ideas on how to sponsor us, we’d love to hear! We’re open to everything. Just send us an email, and we will contact you within 24 hours.

Just be there!

We regularly need an extra pair of hands for our projects. Do you have time to help us with practical matters? That would be great! Please send us an email indicating what you could offer including what your specific talents are. Many thanks!