Chromosome 6 Project

Why the Chromosome 6 Project?

Chromosomal anomalies, such as chromosome 6 deletions (too little chromosomal material) or duplications (too much chromosomal material), are a cause of significant congenital birth defects and developmental delays in children. Knowledge about the effects of these chromosomal changes is important to ensure the best possible guidance and treatment for children with chromosome 6 disorders. There are many different chromosome 6 aberrations possible, each with different symptoms, and all of them are extremely rare. Because of the broad variety of chromosome 6 alterations, there is little information available for each specific aberration, leading to uncertainty for parents and doctors and sub-optimal treatment for children with these aberrations.

Read more about the background of the project on the Background information page and watch the video about the Chromosome 6 Project made by Elizabeth McPherson.

What do we want to do?

We want to compare the exact alterations in chromosome 6 (the genotype) with the effect they have on the appearance and other clinical features of affected individuals (the phenotype). Therefore, we are collecting data about chromosome 6 deletions and duplications from patients from all over the world.

Read more about the project on the Detailed description of the project page.

What do we ask from you?

If you have read all the information about the project and have decided to participate, we ask you to:

  • give your consent for us to collect and store information about you and your child in a secured database,
  • upload the array result of you/your child in a secured environment,
  • complete the online questionnaire about the individual with a chromosome 6 aberration.

Read more about the project on the Detailed description of the project page.

Who can participate?

Patients with a chromosome 6 disorder can participate if:

  • they have a ‘pure’ or isolated chromosome 6 deletion or duplication. This means that, apart from their chromosome 6 aberrations, they do not have another (genetic) disorder.
  • the diagnosis has been made by detailed chromosome analysis, either microarray, oligo-array or SNP-array. See for more information Detailed chromosome analysis.

Read more about participating on the Detailed description of the project page.

How can you participate?

In order to participate you need to:

  • read the information about our study on this webpage,
  • read the privacy statement,
  • register (sign up) the person with a chromosome 6 aberration by uploading the array result,
  • give your consent and fill out the questionnaire.

After you have done so, we will e-mail you an account through which you can log into the secured environment and fill in the online questionnaire.

If you do not have a copy of the array-result,  you can use this template letter to request it from your doctor.

Read more about participation in the Detailed description of the project page.

 

Chromosome 6