How to diagnose r(20) syndrome

In this video Prof Nancy Spinner explains why a chromosome test is required to make a diagnosis of r(20) – or any ring chromosome for that matter – and why this test must be specifically requested by your doctor, as it is not a routine investigation when genetic epilepsy is suspected.

For the specific signs and symptoms of r(20) syndrome for clinicians to be aware of, check out our webpage here.
For newly diagnosed individuals, check out our families information here.

Screenshot 2021-12-20 15.59.57

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