Ring Chromosome 20

Ring chromosome 20 syndrome is one of the more common ring chromosome-associated conditions.^[1] This occurs when both ends of chromosome 20 are deleted and the ends join together to form a ring. The most obvious feature of this condition is epilepsy.

Epilepsy usually manifests in infancy or early childhood, and usually does not respond well to medication.^[2][3]

Some people with ring 20 chromosome have intellectual disability. A minority of those affected have abnormal facial features, low muscle tone, behavioral problems, or short stature.^[1]

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