First case of r(20) syndrome diagnosed 1972

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…

Screenshot 2022-01-16 17.17.44

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