ArticleJournal of neurodevelopmental disorders2010
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications.
Article in Journal of neurodevelopmental disorders, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 1 of them a synthesis that pooled it.
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Who cites it
94 citing papers in PubMed, 1 synthesis or guideline pooled it, 206 citations in OpenAlex.
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development.Journal of the American Academy of Child and Adolescent Psychiatry · 2013Pooled it
- Effect of copy number variants on outcomes for infants with single ventricle heart defects.Circulation. Cardiovascular genetics · 2013Trial
- Review
- Clinical Insights into the Neurodevelopmental Impact of 16p CNVs in an Italian Clinical Cohort.Genes · 2026Article
- Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.Journal of medical genetics · 2026Article
- Cell-type specific global reprogramming of the transcriptome and epigenome in induced neurons with the 16p11.2 neuropsychiatric CNVs.European journal of human genetics : EJHG · 2025Article
- Using Whole Exome Sequencing to Identify Genetic Causes of Neurodevelopmental Disorders in a Cohort of 11 Patients: A Single Center Experience.International journal of molecular sciences · 2025Article
- Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.Orphanet journal of rare diseases · 2025Article
- Neonatal seizures associated with a rare familial 16p11.2 microduplication: A case report.The Journal of international medical research · 2025Article
- Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.Journal of speech, language, and hearing research : JSLHR · 2024Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.American journal of human genetics · 2024Article
- Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.European journal of human genetics : EJHG · 2024Article
- Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.Human genomics · 2024Article
- Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis.BMC psychology · 2024Article
- Review: Cancer and neurodevelopmental disorders: multi-scale reasoning and computational guide.Frontiers in cell and developmental biology · 2024Review
- Review
- Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and theACS chemical neuroscience · 2023Article
- 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?Genes · 2023Review
- A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants.Translational psychiatry · 2023Review
34 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Microdeletions and microduplications encompassing a ~593-kb region of 16p11.2 have been implicated as one of the most common genetic causes of susceptibility to autism/autism spectrum disorder (ASD). We report 45 microdeletions and 32 microduplications of 16p11.2, representing 0.78% of 9,773 individuals referred to our laboratory for microarray-based comparative genomic hybridization (aCGH) testing for neurodevelopmental and congenital anomalies. The microdeletion was de novo in 17 individuals and maternally inherited in five individuals for whom parental testing was available. Detailed histories of 18 individuals with 16p11.2 microdeletions were reviewed; all had developmental delays with below-average intelligence, and a majority had speech or language problems or delays and various behavioral problems. Of the 16 individuals old enough to be evaluated for autism, the speech/behavior profiles of seven did not suggest the need for ASD evaluation. Of the remaining nine individuals who had speech/behavior profiles that aroused clinical suspicion of ASD, five had formal evaluations, and three had PDD-NOS. Of the 19 microduplications with parental testing, five were de novo, nine were maternally inherited, and five were paternally inherited. A majority with the microduplication had delayed development and/or specific deficits in speech or language, though these features were not as consistent as seen with the microdeletions. This study, which is the largest cohort of individuals with 16p11.2 alterations reported to date, suggests that 16p11.2 microdeletions and microduplications are associated with a high frequency of cognitive, developmental, and speech delay and behavior abnormalities. Furthermore, although features associated with these alterations can be found in individuals with ASD, additional factors are likely required to lead to the development of ASD.
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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.