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I've seen two patients in my training with ring chromosome 20 associated epilepsy, which inspired my recent talk at #CleClinicNeuro Peds Epilepsy GR, so I decided to distill it to a #neurogenetics #epilepsy #tweetorial 🤓 🧬
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what is a 💍 chromosome? Rather than having a full complement of rod-shaped chromosomes like this:
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affected individuals have at least one chromosome with circular formation, due to fusion of distal chromosome regions:
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