ReviewClinical dysmorphology2015
A clinical case report and literature review of the 3q29 microdeletion syndrome.
Review in Clinical dysmorphology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed.
- 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
- 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
- Unraveling the enigma of mental disorders: a genetics-first approach and the role of mouse models based on rare disease-susceptible genome variants.Nagoya journal of medical science · 2025Review
- 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
- High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.Genome medicine · 2023Article
- Musculoskeletal phenotypes in 3q29 deletion syndrome.medRxiv : the preprint server for health sciences · 2023Article
- Adaptive behavior deficits in individuals with 3q29 deletion syndrome.medRxiv : the preprint server for health sciences · 2023Article
- Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome.Molecular autism · 2022Article
- Article
- Metabolic effects of the schizophrenia-associated 3q29 deletion.Translational psychiatry · 2022Article
- A family study of symbolic learning and synaptic plasticity in autism spectrum disorder.Frontiers in human neuroscience · 2022Article
- Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.American journal of medical genetics. Part A · 2021Article
- Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome.Translational psychiatry · 2021Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
We report on a 15-year-old male with the 3q29 microdeletion syndrome and summarize the medical literature. He had intellectual disability, autism spectrum disorder, anxiety, obsessive compulsive tendencies, speech delay, delayed walking, a hypernasal voice, gait abnormalities, chronic constipation, gastroesophageal reflux disorder, urinary voiding dysfunction, abnormal skin pigmentation, and dysmorphic features. We present a review of the literature for the 3q29 microdeletion syndrome by comparing both the phenotype and the genetic defects in reported cases. Of the 38 previously reported cases with deletion size information, the most common chromosome deletion was 1.6 Mb in size including ∼ 30 genes. This emerging microdeletion syndrome is characterized by intellectual disability, speech delay, behavioral problems, craniofacial dysmorphism, and musculoskeletal abnormalities.
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