disease arises from structure disease arises from alteration in structure chromosome 22 (Human) ring chromosome 22 https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22 https://www.malacards.org/card/ring_chromosome_22 UMLS:C0265492 Ring chromosome type 22 R22 MONDO:0015438 NORD:948 chromosome 22 ring Ring chromosome 22 syndrome MEDGEN:539299 r(22) syndrome SCTID:13555004 Orphanet:1446 Chromosome 22 Ring Ring 22 MESH:C536795 Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family. GARD:0001336 chromosome 22 disorder ring chromosome disorder