disease arises from structure disease arises from alteration in structure chromosome 20 (Human) chromosome 20 trisomy https://rarediseases.info.nih.gov/diseases/5332/chromosome-20-trisomy NCIT:C36397 mosaic trisomy 20 GARD:0005332 trisomy 20 trisomy 20 mosaicism UMLS:C5979883 MEDGEN:1876538 MESH:C535372 Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization. trisomy chromosome 20 MONDO:0022757 chromosome 20 disorder trisomy