ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 49 citations in OpenAlex.
- Cerebellar mitochondrial dysfunction coincides with structural and behavioral abnormalities in 3q29Del mice.bioRxiv : the preprint server for biology · 2026Article
- Complex structural variation, phylogeny, and disease associations of the mucin pangenome.medRxiv : the preprint server for health sciences · 2026Article
- Development and Validation of a Cross-Dimensional Screening Protocol for Remote Phenotyping Applied to Individuals With 3q29 Deletion Syndrome.Journal of intellectual disability research : JIDR · 2026Article
- 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
- Multiplex Portuguese Families as a Lens into rare mutations and the Shared Genetic Architecture of Schizophrenia, Mood Disorders, and Autism Spectrum Disorders.medRxiv : the preprint server for health sciences · 2026Article
- Convergent effects of neurodevelopmental disorder-associated variants at mitochondria.bioRxiv : the preprint server for biology · 2026Article
- Case Report: Early-onset psychosis as a sentinel manifestation of 3q29 deletion syndrome in an adolescent with neurodevelopmental disorders.Frontiers in child and adolescent psychiatry · 2026Article
- Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry.Journal of autism and developmental disorders · 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
- Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome.Molecular psychiatry · 2024Article
- Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome.Psychological medicine · 2024Article
- Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.Journal of autism and developmental disorders · 2024Article
- Phenotypes for general behavior, activity, and body temperature in 3q29 deletion model mice.Translational psychiatry · 2024Article
- Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.Journal of intellectual disability research : JIDR · 2024Article
- Musculoskeletal phenotypes in 3q29 deletion syndrome.American journal of medical genetics. Part A · 2023Article
- Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.Science advances · 2023Article
- Ontologizing health systems data at scale: making translational discovery a reality.NPJ digital medicine · 2023Article
- High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.Genome medicine · 2023Article
- Adaptive behavior deficits in individuals with 3q29 deletion syndrome.medRxiv : the preprint server for health sciences · 2023Article
- Musculoskeletal phenotypes in 3q29 deletion syndrome.medRxiv : the preprint server for health sciences · 2023Article
Corrections and comments
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Authors and funding
24 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care.
methodsThirty-two individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized data collection instruments.
resultsMedical manifestations were varied and reported across nearly every organ system. The most severe manifestations were congenital heart defects (25%) and the most common were gastrointestinal symptoms (81%). Physical examination revealed a high proportion of musculoskeletal findings (81%). Neurodevelopmental phenotypes represent a significant burden and include intellectual disability (34%), autism spectrum disorder (38%), executive function deficits (46%), and graphomotor weakness (78%). Psychiatric illness manifests across the lifespan with psychosis prodrome (15%), psychosis (20%), anxiety disorders (40%), and attention deficit-hyperactivity disorder (ADHD) (63%). Neuroimaging revealed structural anomalies of the posterior fossa, but on neurological exam study subjects displayed only mild or moderate motor vulnerabilities.
conclusionBy direct evaluation of 3q29 deletion study subjects, we document common features of the syndrome, including a high burden of neurodevelopmental and neuropsychiatric phenotypes. Evidence-based recommendations for evaluation, referral, and management are provided to help guide clinicians in the care of 3q29 deletion patients.
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