New publication
Genes & inheritance
1 supporting source
confidence 97%
novelty 75%
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1
Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype.
How this was derived
Indexed from **pmc** on 2026-11-13 (relevance 1.00, tier peer_reviewed).
Generated 2026-11-13, last changed
yesterday. Dedup key newdoc:386.
The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.
Evidence (1 quote)
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications
peer_reviewed
· published 2024-01-01
· live page
Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared the phenotypes of carriers of reciprocal microdeletions and microduplications at the 3q29 locus.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Delineation of the Genetic Architecture and Clinical Polymorphism o... | pmc | 2024-01-01 | yesterday | 1.00 |