partial duplication of the short arm of chromosome 2
Go to external page http://purl.obolibrary.org/obo/MONDO_0016939
Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. [ GARD:0005337 ]
Synonyms: partial trisomy of chromosome 2p partial duplication of chromosome 2p partial duplication of the short arm of chromosome type 2
Term information
- MEDGEN:208635 (MONDO:equivalentTo)
- MESH:C538318 (MONDO:equivalentTo)
- Orphanet:262698 (MONDO:equivalentTo)
- GARD:5337 (MONDO:GARD)
- UMLS:C0795803 (MONDO:equivalentTo)
- icd11.foundation:232544112 (https://orcid.org/0000-0002-4142-7153)
gard_rare, disease_grouping, rare, ordo_group_of_disorders
http://linkedlifedata.com/resource/umls/id/C0795803
http://www.orpha.net/ORDO/Orphanet_262698
http://identifiers.org/mesh/C538318
http://identifiers.org/medgen/208635
trisomy 2p
chromosome 2p duplication
2p duplication
Duplication 2p
2p trisomy
partial trisomy 2p