partial trisomy of the long arm of chromosome 5
Go to external page http://purl.obolibrary.org/obo/MONDO_0016956
Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. 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 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. [ GARD:0005351 ]
Synonyms: partial trisomy of the long arm of chromosome type 5 partial duplication of chromosome 5q partial duplication of the long arm of chromosome 5 partial trisomy of chromosome 5q
Term information
- GARD:5351 (MONDO:GARD)
- UMLS:C1802398 (MONDO:equivalentTo)
- icd11.foundation:722703441 (https://orcid.org/0000-0002-4142-7153)
- MESH:C537650 (MONDO:equivalentTo)
- Orphanet:262869 (MONDO:equivalentTo)
- MEDGEN:315659 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, ordo_group_of_disorders
http://www.orpha.net/ORDO/Orphanet_262869
http://identifiers.org/medgen/315659
http://linkedlifedata.com/resource/umls/id/C1802398
http://identifiers.org/mesh/C537650
trisomy 5q
5q trisomy
Duplication 5q
partial trisomy 5q
5q duplication
chromosome 5q duplication