In 1959 to the 1980’s everyone was using Chromosomes to try to understand different syndromes their patients presented with. Ring chromosome 20 was first described as a ‘syndrome’ in 1972 with recognisable features:
- Epilepsy
- Behaviour problems
- Intellectual disability
Chromosome analysis is less widely used now, with newer genetic testing techniques being favoured for their more detailed and accurate results – except in the case of ring Chromosomes. In our next post we will demonstrate how this shift change in diagnostic techniques has resulted in a downturn in people being diagnosed with r(20) syndrome.
Watch this short videos to learn more…
More in this series:
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- 8 Evolution of r(20) diagnosis