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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
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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.
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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…
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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...
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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.
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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...
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