syndrome caused by partial chromosomal duplication
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 ]
Term info
- DOID:0060429 (MONDO:equivalentTo)
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
A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.
http://purl.obolibrary.org/obo/DOID_0060429
microduplication sydrome
chromosomal duplication syndrome
MONDO:0000762