syndrome caused by partial chromosomal duplication
Go to external page http://purl.obolibrary.org/obo/MONDO_0000762
A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome. [ https://orcid.org/0000-0002-4142-7153 ]
Synonyms: microduplication sydrome
Term information
- DOID:0060429 (MONDO:equivalentTo)
gard_rare, rare
This term includes partial trisomy (one additional copy of a chromosome part), and partial tetrasomy (2 additional copies of a chromosome part). Editor note: this is used in DOID to encompass typically partial duplications