Cytogeneticists study the cells in our human bodies and they look at our chromosomes to see if anything is added, missing or has otherwise gone wrong. Chromosome analysis (or karyotyping) is the original way to diagnose genetic disorders and remains the only definitive way to diagnose a ring chromosome 20 – particularly in the mosaic cases which account for the majority of people with r(20) syndrome.
Other more commonly used sequencing techniques will NOT typically diagnose r(20) syndrome.
Watch this short video to learn more…
Chromosome analysis came into practice in 1959, with the first demonstration that an abnormality of our chromosomes can cause a human disease.