ArticleAmerican journal of human genetics2005
Microduplication and triplication of 22q11.2: a highly variable syndrome.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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Who cites it
74 citing papers in PubMed.
- Transgenic expression of microRNA-185 causes a developmental arrest of T cells by targeting multiple genes including Mzb1.The Journal of biological chemistry · 2013Trial
- Tbx1 heterozygosity in the oligodendrocyte lineage shifts myelinated axon composition in the mouse fimbria without behavioral impairments.Molecular brain · 2026Article
- Article
- Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases.Molecular neurobiology · 2026Article
- Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases.Research square · 2025Article
- The impact of 22q11.2 copy-number variants on human traits in the general population.American journal of human genetics · 2023Article
- Article
- 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.European journal of human genetics : EJHG · 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
- Upregulation of DGCR8, a Candidate Predisposing to Schizophrenia in Han Chinese, Contributes to Phenotypic Deficits and Neuronal Migration Delay.Frontiers in psychiatry · 2022Article
- Review
- Cecr2 mutant mice as a model for human cat eye syndrome.Scientific reports · 2021Article
- Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.BMC medical genomics · 2019Article
- Clinical application of chromosomal microarray analysis in fetuses with increased nuchal translucency and normal karyotype.Molecular genetics & genomic medicine · 2019Article
- Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations.The international journal of neuropsychopharmacology · 2019Review
- Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.Molecular genetics & genomic medicine · 2019Article
- Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome.American journal of ophthalmology case reports · 2019Article
- Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.Nature communications · 2019Article
- 22q11.2 Microduplication: An Enigmatic Genetic Disorder.Journal of pediatric genetics · 2018Article
- Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Human molecular genetics · 2018Article
14 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors.
Funding
Abstract
22q11.2 microduplications of a 3-Mb region surrounded by low-copy repeats should be, theoretically, as frequent as the deletions of this region; however, few microduplications have been reported. We show that the phenotype of these patients with microduplications is extremely diverse, ranging from normal to behavioral abnormalities to multiple defects, only some of which are reminiscent of the 22q11.2 deletion syndrome. This diversity will make ascertainment difficult and will necessitate a rapid-screening method. We demonstrate the utility of four different screening methods. Although all the screening techniques give unique information, the efficiency of real-time polymerase chain reaction allowed the discovery of two 22q11.2 microduplications in a series of 275 females who tested negative for fragile X syndrome, thus widening the phenotypic diversity. Ascertainment of the fragile X-negative cohort was twice that of the cohort screened for the 22q11.2 deletion. We also report the first patient with a 22q11.2 triplication and show that this patient's mother carries a 22q11.2 microduplication. We strongly recommend that other family members of patients with 22q11.2 microduplications also be tested, since we found several phenotypically normal parents who were carriers of the chromosomal abnormality.
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