ArticleHuman molecular genetics2009
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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The trial behind it
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Who cites it
24 citing papers in PubMed, 105 citations in OpenAlex.
- Effect of copy number variants on outcomes for infants with single ventricle heart defects.Circulation. Cardiovascular genetics · 2013Trial
- Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.Heart (British Cardiac Society) · 2025Observational
- A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.Clinical neuropsychiatry · 2023Article
- Clinical Features of Aberrations Chromosome 22q: A Pilot Study.Global medical genetics · 2022Article
- Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study.American journal of medical genetics. Part A · 2022Article
- Spatiotemporal 22q11.21 Protein Network Implicates DGCR8-Dependent MicroRNA Biogenesis as a Risk for Late-Fetal Cortical Development in Psychiatric Diseases.Life (Basel, Switzerland) · 2021Article
- Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth.Cytogenetic and genome research · 2020Article
- Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities.Medical sciences (Basel, Switzerland) · 2019Article
- Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome.Frontiers in genetics · 2019Article
- Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy.Scientific reports · 2018Article
- Genotype and phenotype spectrum of NRAS germline variants.European journal of human genetics : EJHG · 2017Article
- Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.International journal of molecular sciences · 2017Article
- Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.BioMed research international · 2016Article
- Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.Molecular genetics & genomic medicine · 2015Article
- Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication.Genetics research international · 2015Article
- Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.Molecular syndromology · 2013Article
- Mouse Models of 22q11.2-Associated Autism Spectrum Disorder.Autism-open access · 2012Article
- Phenotypic variability and genetic susceptibility to genomic disorders.Human molecular genetics · 2010Review
- Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.Pediatrics · 2010Article
Corrections and comments
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Authors and funding
22 authors at 12 institutions in 1 country.
Funding
Abstract
Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion region, duplications are predicted to occur with a frequency equal to the deletion. However, few microduplications of this region have been reported. We report the identification of 18 individuals with microduplications of 22q11.21-q11.23. The duplication boundaries for all individuals are within LCRs distal to the DiGeorge/velocardiofacial microdeletion region. Clinical records for nine subjects reveal shared characteristics, but also several examples of contradicting clinical features (e.g. macrocephaly versus microcephaly and upslanting versus downslanting palpebral fissures). Of 12 cases for whom parental DNA samples were available for testing, one is de novo and 11 inherited the microduplication from a parent, three of whom reportedly have learning problems or developmental delay. The variable phenotypes and preponderance of familial cases obfuscate the clinical relevance of the molecular data and emphasize the need for careful parental assessments and clinical correlations.
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