partial duplication of the long arm of chromosome 3
Go to external page http://purl.obolibrary.org/obo/MONDO_0016954
Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. 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 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q 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:0005345 ]
Synonyms: partial trisomy of chromosome 3q partial duplication of chromosome 3q partial duplication of the long arm of chromosome type 3
Term information
- MESH:C536813 (MONDO:equivalentTo)
- Orphanet:262851 (MONDO:equivalentTo)
- UMLS:C0795809 (MONDO:equivalentTo)
- icd11.foundation:1132834719 (https://orcid.org/0000-0002-4142-7153)
- GARD:5345 (MONDO:GARD)
- MEDGEN:208636 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, ordo_group_of_disorders
http://identifiers.org/mesh/C536813
http://www.orpha.net/ORDO/Orphanet_262851
http://linkedlifedata.com/resource/umls/id/C0795809
http://identifiers.org/medgen/208636