ArticleAmerican journal of medical genetics. Part A2020
New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Driver or passenger? A new assessment of genes in the schizophrenia-associated 3q29 deletion locus for contribution to neurodevelopmental disorders.Journal of neurodevelopmental disorders · 2026Review
- Comparison of autism domains across thirty rare variant genotypes.EBioMedicine · 2025Article
- 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.Molecular genetics & genomic medicine · 2025Review
- Whole genome sequencing study of identical twins discordant for psychosis.Translational psychiatry · 2024Article
- High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.Genome medicine · 2023Article
- 3q29 microduplication syndrome: New evidence for the refinement of the critical region.Molecular genetics & genomic medicine · 2023Article
- Cytogenomic epileptology.Molecular cytogenetics · 2023Review
- A familial 3q28q29 duplication induced mild intellectual disability: case presentation and literature review.American journal of translational research · 2022Article
- Optical genome mapping enables constitutional chromosomal aberration detection.American journal of human genetics · 2021Article
- Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome.Translational psychiatry · 2021Article
- Clinical evaluation of patients with a neuropsychiatric risk copy number variant.Current opinion in genetics & development · 2021Review
- Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.Cold Spring Harbor molecular case studies · 2020Article
- Phenotype Heterogeneity in 3q29 Microduplication Syndrome.Current health sciences journalArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
3q29 duplication syndrome (3q29dup) is a rare genomic disorder caused by a 1.6 Mb duplication (GRCh38 chr3:195,998,000-197,623,000). Case reports indicate the 3q29dup is likely to be pathogenic, but the full range of manifestations is not well understood. We used the 3q29 registry (https://3q29.com) to ascertain 31 individuals with 3q29dup, the largest cohort ever surveyed in a systematic way. For comparison, we ascertained 117 individuals with the reciprocal 3q29 deletion and 64 typically developing controls. We used a custom medical and demographic questionnaire to assess physical and developmental phenotypes, and two standardized instruments, the Social Responsiveness Scale and Child Behavior Checklist/Adult Behavior Checklist, to assess social disability. Participants with 3q29dup report a high rate of problems in the first year of life (80.6%), including feeding problems (55%), failure to gain weight (42%), hypotonia (39%), and respiratory distress (29%). In early childhood, learning problems (71.0%) and seizures (25.8%) are common. Additionally, the rate of self-reported autism spectrum disorder diagnoses (39%) is substantially elevated compared to the general population, suggesting that the 3q29 duplication may be an autism susceptibility locus. This is the most comprehensive description of 3q29dup to date. Our findings can be used to develop evidence-based strategies for early intervention and management of 3q29dup.
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