SynthesisJournal of medical genetics2019
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Synthesis in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
What it found
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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
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 84 citations in OpenAlex.
- Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.Genome medicine · 2022Pooled it
- 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
- Article
- Genetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy.Epilepsy currents · 2026Review
- Chromosomal microarray analysis for the prenatal diagnosis in fetuses with fetal echogenic bowel: a retrospective cohort study.BMC pregnancy and childbirth · 2026Article
- Updated penetrance estimates for recurrent copy number variants - an improved definition and formula.European journal of human genetics : EJHG · 2026Article
- Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses.Frontiers in genetics · 2026Article
- Article
- The importance of intrafamilial cognitive phenotyping by the case of 22q11.2 deletion, 15q11.2 deletion, and families with inherited copy number variants of unknown significance.Journal of neurodevelopmental disorders · 2025Article
- Altered development and network connectivity in a human neuronal model of 15q11.2 deletion-related neurodevelopmental disorders.Translational psychiatry · 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
- Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.Molecular cytogenetics · 2024Article
- Intralesional epileptiform activity in a fourth ventricular hamartoma associated with epileptic hemifacial spasm in a toddler: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities.BMC pregnancy and childbirth · 2024Article
- Evaluation the Application of Karyotype Analysis and Chromosome Microarray in Prenatal Diagnosis.Iranian journal of public health · 2024Article
- Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.BMC pregnancy and childbirth · 2024Article
- Challenges in multi-task learning for fMRI-based diagnosis: Benefits for psychiatric conditions and CNVs would likely require thousands of patients.Imaging neuroscience (Cambridge, Mass.) · 2024Article
- A decade of change - lessons learned from prenatal diagnostics in Central Denmark region in 2008-2018.Acta obstetricia et gynecologica Scandinavica · 2023Article
- Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants.The American journal of psychiatry · 2023Article
Corrections and comments
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Authors and funding
29 authors at 17 institutions in 7 countries.
Funding
Abstract
backgroundThe 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case-control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical case series have attempted to delineate a microdeletion syndrome with considerable phenotypic variability. The literature on this deletion is extensive and confusing, which is a challenge for genetic counselling. The aim of this study was to estimate the effect size of the 15q11.2 deletion and quantify its contribution to neurodevelopmental disorders.
methodsWe performed meta-analyses on new and previously published case-control studies and used statistical models trained in unselected populations with cognitive assessments. We used new (n=241) and previously published (n=150) data from a clinically referred group of deletion carriers. 15q11.2 duplications (new n=179 and previously published n=35) were used as a neutral control variant.
resultsThe deletion decreases IQ by 4.3 points. The estimated ORs and respective frequencies in deletion carriers for intellectual disabilities, schizophrenia and epilepsy are 1.7 (3.4%), 1.5 (2%) and 3.1 (2.1%), respectively. There is no increased risk for heart malformations and autism. In the clinically referred group, the frequency and nature of symptoms in deletions are not different from those observed in carriers of the 15q11.2 duplication suggesting that most of the reported symptoms are due to ascertainment bias.
conclusionsWe recommend that the deletion should be classified as 'pathogenic of mild effect size'. Since it explains only a small proportion of the phenotypic variance in carriers, it is not worth discussing in the developmental clinic or in a prenatal setting.
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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.