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My 17‐year‐old son, David, has ring chromosome 20 syndrome—r(20) syndrome—an ultra‐rare disease, the main symptom being intractable epilepsy. Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality where the two arms of chromosome 20 fuse to form a ring chromosome.The syndrome is associated with epileptic seizures, behaviour disorders and mental retardation.. Ring chromosome 20 syndrome (r(20)) is an ultra‐rare disease characterized by drug‐refractory epilepsy, cognitive impairment, and behavioral problems. Chromosome 20p Duplication Syndrome is a rare chromosome abnormality that occurs when there is an extra copy (duplication) of genetic material on the short arm (p) of chromosome 20 The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Chromosome 20p deletion syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. Nonpharmacological treatments alongside antiepileptic drugs early after diagnosis may help reduce seizure frequency and preserve cognition. Chromosome 20p deletion syndrome: Introduction. When not all cells contain a ring chromosome 20, the individual suffers from ring 20 chromosomal mosaicism. Patau syndrome is a result of an extra copy of chromosome 13 in a developing fetus’s DNA. Ring20 Research and Support UK has been set up to support families, individuals and professionals who are affected by, or who come into contact with Ring Chromosome 20 Syndrome (r20). Ring chromosome 20 syndrome: | | ||| | Normal chromosome 20 and ring chromosome 20 in an... World Heritage Encyclopedia, the aggregation of the largest online encyclopedias available, and the most definitive collection ever assembled. Rings may be present in all (nonmosaic), or many (mosaic), of the patient's cells. Seizures often start suddenly following normal … The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.