partial duplication of the short arm of chromosome 7
Go to external page http://purl.obolibrary.org/obo/MONDO_0016944
Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. 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 7p 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:0005355 ]
Synonyms: partial duplication of chromosome 7p partial trisomy of the short arm of chromosome 7 partial trisomy of chromosome 7p partial duplication of the short arm of chromosome type 7
Term information
- MEDGEN:162875 (MONDO:equivalentTo)
- MESH:C537819 (MONDO:equivalentTo)
- icd11.foundation:79901143 (https://orcid.org/0000-0002-4142-7153)
- Orphanet:262749 (MONDO:equivalentTo)
- GARD:5355 (MONDO:GARD)
- UMLS:C0795820 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, ordo_group_of_disorders
http://linkedlifedata.com/resource/umls/id/C0795820
http://identifiers.org/medgen/162875
http://identifiers.org/mesh/C537819
http://www.orpha.net/ORDO/Orphanet_262749
partial trisomy 7p
7p duplication
chromosome 7p duplication
7p trisomy
trisomy 7p
Duplication 7p