Ring Chromosome 20 – here is what you need to know in 2023

Ring chromosome 20. If you are a regular reader of this blog, you’ll know that much of our focus is on single genes and their relationships to neurodevelopmental disorder. Admittedly, we may neglect cytogenetic conditions. However, in today’s post, we highlight ring chromosome 20 as a likely underdiagnosed genetic epilepsy with distinct clinical features.

Continue reading