ReviewInternational journal of molecular sciences2015
The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Review in International journal of molecular sciences, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
114 citing papers in PubMed, 2 syntheses or guidelines pooled it, 247 citations in OpenAlex.
- Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.HGG advances · 2024Pooled it
- Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.Journal of medical genetics · 2019Pooled it
- Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.European journal of human genetics : EJHG · 2019Trial
- Chromosomal Microarray Diagnostic Yield and Copy Number Variants in a Clinically Well-Characterized Cohort with Nonsyndromic Autism Spectrum Disorder from Southern Brazil.Diagnostics (Basel, Switzerland) · 2026Article
- Article
- Prenatal diagnosis and estimated penetrance of 15q11.2 BP1-BP2 microdeletion syndrome in a Chinese cohort: a retrospective study and literature review.Human genomics · 2026Review
- Prenatal diagnosis and pregnancy outcome of fetuses with 15q11.2 BP1-BP2 microdeletion syndrome: a single-center retrospective study of 34 cases.BMC pediatrics · 2026Article
- Control of microglial dynamics by the Arp2/3 complex and the autism- and schizophrenia-associated protein CYFIP1.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Zebrafish screen of schizophrenia risk genes reveals convergent dysregulation of cholesterol metabolism.bioRxiv : the preprint server for biology · 2026Article
- Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.Diagnostics (Basel, Switzerland) · 2026Article
- A rareFrontiers in genetics · 2026Article
- Human acrocentric chromosome short armbioRxiv : the preprint server for biology · 2025Article
- Can cell-free fetal DNA screening be utilized for the assessment of chromosomal abnormalities in fetuses with mildly increased nuchal translucency?Archives of gynecology and obstetrics · 2025Article
- Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate.Human molecular genetics · 2025Article
- Altered development and network connectivity in a human neuronal model of 15q11.2 deletion-related neurodevelopmental disorders.Translational psychiatry · 2025Article
- Mapping Cerebellar Morphology in 15q11.2 CNV Carriers Using Normative Modeling.medRxiv : the preprint server for health sciences · 2025Article
- Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing.International journal of molecular sciences · 2025Article
- Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases.Scientific reports · 2025Article
- Congenital heart disease presentations in the 15q11.2 microdeletion syndrome.Frontiers in genetics · 2025Review
- Genomics of severe and treatment-resistant obsessive-compulsive disorder treated with deep brain stimulation: A preliminary investigation.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2024Article
54 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Patients with the 15q11.2 BP1-BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and psychiatric problems. Autism, seizures, schizophrenia and mild dysmorphic features are less commonly seen. The 15q11.2 BP1-BP2 microdeletion involving four genes (i.e., TUBGCP5, CYFIP1, NIPA1, NIPA2) is emerging as a recognized syndrome with a prevalence ranging from 0.57%-1.27% of patients presenting for microarray analysis which is a two to four fold increase compared with controls. Review of clinical features from about 200 individuals were grouped into five categories and included developmental (73%) and speech (67%) delays; dysmorphic ears (46%) and palatal anomalies (46%); writing (60%) and reading (57%) difficulties, memory problems (60%) and verbal IQ scores ≤75 (50%); general behavioral problems, unspecified (55%) and abnormal brain imaging (43%). Other clinical features noted but not considered as common were seizures/epilepsy (26%), autism spectrum disorder (27%), attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD) (35%), schizophrenia/paranoid psychosis (20%) and motor delay (42%). Not all individuals with the deletion are clinically affected, yet the collection of findings appear to share biological pathways and presumed genetic mechanisms. Neuropsychiatric and behavior disturbances and mild dysmorphic features are associated with genomic imbalances of the 15q11.2 BP1-BP2 region, including microdeletions, but with an apparent incomplete penetrance and variable expressivity.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.