partial duplication of the long arm of chromosome 4
Go to external page http://purl.obolibrary.org/obo/MONDO_0016955
Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person. [ GARD:0005347 ]
Synonyms: partial trisomy of the long arm of chromosome 4 dup(4q) syndrome, partial Duplication 4q syndrome, partial partial trisomy of chromosome 4q chromosome 4, partial trisomy 4q distal 4q trisomy partial duplication of chromosome 4q partial trisomy 4q syndrome partial duplication of the long arm of chromosome type 4
Term information
- DOID:0111159 (MONDO:equivalentTo)
- Orphanet:262860 (MONDO:equivalentTo)
- UMLS:C0795812 (MONDO:equivalentTo)
- GARD:5347 (MONDO:GARD)
- MEDGEN:162874 (MONDO:equivalentTo)
- icd11.foundation:959729903 (https://orcid.org/0000-0002-4142-7153)
- MESH:C537644 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, ordo_group_of_disorders
http://linkedlifedata.com/resource/umls/id/C0795812
http://identifiers.org/medgen/162874
http://purl.obolibrary.org/obo/DOID_0111159
http://www.orpha.net/ORDO/Orphanet_262860
http://identifiers.org/mesh/C537644
trisomy 4q
4q duplication
partial trisomy 4q
partial trisomy distal 4q
Duplication 4q
chromosome 4q duplication
4q trisomy