Ring chromosome 20
Ring chromosome 20
Definition
Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.
Also known as ring chromosome 20 syndrome, ring chromosome type 20 — per MONDO