ArticleAmerican journal of human genetics2003
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 124 papers.
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Who cites it
124 citing papers in PubMed, 376 citations in OpenAlex.
- Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array.Molecular biology reports · 2020Trial
- Transgenic expression of microRNA-185 causes a developmental arrest of T cells by targeting multiple genes including Mzb1.The Journal of biological chemistry · 2013Trial
- Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.Human genetics · 2013Trial
- Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study.Epilepsia open · 2026Article
- Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.Genes · 2026Review
- Tbx1 heterozygosity in the oligodendrocyte lineage shifts myelinated axon composition in the mouse fimbria without behavioral impairments.Molecular brain · 2026Article
- Combinatorial effects of gene dosage, polygenic background and environment on complex traits.medRxiv : the preprint server for health sciences · 2026Article
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- Copy Number Variation Analysis.Methods in molecular biology (Clifton, N.J.) · 2026Article
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- Effects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variations.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- Severe Pediatric Dystonia Responding to Deep Brain Stimulation in 22q11.2 Microduplication Syndrome: Rare Clinical Presentation.Movement disorders clinical practice · 2024Article
- Effects of Gene Dosage and Development on Subcortical Nuclei Volumes in Individuals with 22q11.2 Copy Number Variations.bioRxiv : the preprint server for biology · 2023Article
- Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.European journal of human genetics : EJHG · 2023Article
- Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.Journal of clinical immunology · 2023Article
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- Longitudinal trajectories of cortical development in 22q11.2 copy number variants and typically developing controls.Molecular psychiatry · 2022Article
- Clinical Features of Aberrations Chromosome 22q: A Pilot Study.Global medical genetics · 2022Article
- A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.BMC pediatrics · 2022Article
64 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome (DG/VCFS) is a common disorder resulting from microdeletion within the same band. Although both deletion and duplication are expected to occur in equal proportions as reciprocal events caused by LCR-mediated rearrangements, very few microduplications have been identified. We have identified 13 cases of microduplication 22q11.2, primarily by interphase fluorescence in situ hybridization (FISH). The size of the duplications, determined by FISH probes from bacterial artificial chromosomes and P(1) artificial chromosomes, range from 3-4 Mb to 6 Mb, and the exchange points seem to involve an LCR. Molecular analysis based on 15 short tandem repeats confirmed the size of the duplications and indicated that at least 1 of 15 loci has three alleles present. The patients' phenotypes ranged from mild to severe, sharing a tendency for velopharyngeal insufficiency with DG/VCFS but having other distinctive characteristics, as well. Although the present series of patients was ascertained because of some overlapping features with DG/VCF syndromes, the microduplication of 22q11.2 appears to be a new syndrome.
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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.