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…