Search

Diagnosing genetic epilepsies

There are hundreds of genes that are known to cause epilepsy, none of which are related to r(20) syndrome. Watch this video to find out...

Evolution of r(20) syndrome diagnosis

We surveyed our families to find out the year they were diagnosed with r(20). This is what we found....

First case of r(20) syndrome diagnosed 1972

Ring Chromosome 20 was first described as a syndrome in 1972, so not that long ago. Find our more about the history of r(20) syndrome

FISH

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.

Ring Chromosomes: Diagnostic Testing

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…

What is a ring chromosome

We have learnt about the 23 pairs of chromosomes, but what is a ring chromosome?. Watch this short video to find out more...

Introducing our Glossary of Terms

There are some things that we DO KNOW about Ring chromosome 20 Syndrome (r(20) syndrome), but there’re lots more that we DON’T YET KNOW.

Different ways to diagnose genetic disorders

"Chromosome analysis came into practice in 1959, with the first demonstration that an abnormality of our chromosomes can cause a human disease." Chromosome analysis is required to diagnose a ring chromosome. Watch this short video to find out more...

Different types of genetic disorders

"There are lots of different ways for something to be a genetic disorder...one of them is ring chromosome 20, so that is a chromosome disorder." Watch this short video to find out more...

Chromosomes, Genes and DNA

Introduction to a few scientific terms that might be helpful for families.

UNRAVEL Phase I – What’s it all about?

There are some things that we DO KNOW about Ring chromosome 20 Syndrome (r(20) syndrome), but there’re lots more that we DON’T YET KNOW.

AGM 2021

Read the documents from our latest AGM

Sign up to our mailing list