ArticleAmerican journal of medical genetics. Part A2008
The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 31 citations in OpenAlex.
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Infertility patients with chromosome inversions are not susceptible to an inter-chromosomal effect.Journal of assisted reproduction and genetics · 2019Article
- Characterizing polymorphic inversions in human genomes by single-cell sequencing.Genome research · 2016Article
- Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation.Molecular syndromology · 2016Article
- A Loss or a Gain, Is It Not All the Same?Molecular syndromology · 2016Article
- Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.Molecular syndromology · 2016Article
- 7q11.23 Duplication syndrome: Physical characteristics and natural history.American journal of medical genetics. Part A · 2015Article
- Discovery of structural alterations in solid tumor oligodendroglioma by single molecule analysis.BMC genomics · 2013Article
- Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe.Molecular cytogenetics · 2011Article
- Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.NeuroImage · 2010Review
- Copy number variants at Williams-Beuren syndrome 7q11.23 region.Human genetics · 2010Review
- Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.Human genetics · 2010Article
- Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2010Article
- Inversion variants in the human genome: role in disease and genome architecture.Genome medicine · 2010Article
- An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.European journal of human genetics : EJHG · 2010Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Williams-Beuren syndrome (WBS) is caused by a approximately 1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv-1, exists as a polymorphism but was also found in individuals with WBS-like features but no deletion, suggesting it could cause clinical symptoms. We performed a full clinical, developmental and genetic assessment of two previously reported individuals with clinical symptoms and WBSinv-1 but no 7q11.23 deletion. We also examined expression of genes at 7q11.23 in individuals in the general population who have WBSinv-1. We show that individuals with clinical symptoms and WBSinv-1 do not show significant clinical or psychological overlap with individuals with WBS. In addition, a 1.3 Mb duplication of part of the velocardiofacial syndrome region on chromosome 22q11.2 was found in one participant with WBSinv-1 and clinical symptoms. We also demonstrate that individuals with WBSinv-1 show normal expression of genes from the WBS region. These results suggest that WBSinv-1 does not cause clinical symptoms and we advise caution when diagnosing individuals with atypical presentation of rare syndromes. Whole genome analysis may reveal previously unidentified copy number variants that could contribute to syndromic features.
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