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Have a look at the videos, blogs and interactive tools on this page that we have created to help you UNRAVEL the mysteries of r(20) syndrome.
New updates will be regularly added below, so keep coming back for more information…

On this page:

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Basics of Genomics: How might this help?

What’s the difference between genetics and genomics? How can genomics help people with r(20), both with a diagnosis and those without? We’ll try and explain what’s possible – and what’s not possible.

Understanding your Diagnosis: Genetics 101

Has anyone ever explained your r(20) diagnosis and what this means? We’ll try and unravel the mysteries of what we know and what we don’t know about r(20) syndrome.

FISH (Fluorescence In Situ Hybridization) is a special test that can detect and locate specific chromosome regions such as a piece of DNA missing or in the wrong place.
Want to know how a ring chromosome can be diagnosed? In this slideshow we explain the testing techniques that can be used to identify a ring chromosome. We will also briefly introduce you to what your test result might look like…
We have learnt about the 23 pairs of Chromosomes, but what is a ring chromosome?. Watch this short video to find out more...

Fundamentals of Research: What you need to know

For many r(20) patients and families this will be their first opportunity to participate in research. There are some basic principles that we’ll try and explain to you before you get started.

More information coming soon…

Ethical Approval

Ethical approval is required for any new research to ensure patients and their families are protected. We’ll be starting this process as soon as possible.

More information coming soon…

Consent Forms

Before you sign-up to any research study you need to provide your consent, so we’ll be preparing consent forms in readiness for Phase II.

More information coming soon…