ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2010
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 84 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
- Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.Genetics · 2021Article
- Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.American journal of medical genetics. Part A · 2020Article
- Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.Human genetics · 2018Article
- Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.American journal of human genetics · 2017Article
- An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.Scientific reports · 2017Article
- Characterizing polymorphic inversions in human genomes by single-cell sequencing.Genome research · 2016Article
- 7q11.23 Duplication syndrome: Physical characteristics and natural history.American journal of medical genetics. Part A · 2015Article
- Human inversions and their functional consequences.Briefings in functional genomics · 2015Review
- Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.BioMed research international · 2015Article
- Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.Molecular syndromology · 2014Article
- The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.PLoS genetics · 2014Article
- Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers.Molecular cytogenetics · 2014Article
- Discovery of structural alterations in solid tumor oligodendroglioma by single molecule analysis.BMC genomics · 2013Article
- Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.American journal of human genetics · 2013Article
- Duplication of GTF2I results in separation anxiety in mice and humans.American journal of human genetics · 2012Article
- Longitudinal assessment of intellectual abilities of children with Williams syndrome: multilevel modeling of performance on the Kaufman Brief Intelligence Test-Second Edition.American journal on intellectual and developmental disabilities · 2012Article
- High rates of de novo 15q11q13 inversions in human spermatozoa.Molecular cytogenetics · 2012Article
- Review
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Authors and funding
9 authors at 7 institutions in 5 countries.
Funding
Abstract
Williams syndrome (WS) is a multisystem disorder caused by deletion of about 1.55 Mb of DNA (including 26 genes) on chromosome 7q11.23, a region predisposed to recombination due to its genomic structure. Deletion of the Williams syndrome chromosome region (WSCR) occurs sporadically. To better define chance for familial recurrence and to investigate the prevalence of genomic rearrangements of the region, 257 children with WS and their parents were studied. We determined deletion size in probands by metaphase FISH, parent-of-origin of the deleted chromosome by molecular genetic methods, and inversion status of the WSCR in both parents by interphase FISH. The frequency of WSCR inversion in the transmitting parent group was 24.9%. In contrast, the rate of inversion in the non-transmitting parent group (a reasonable estimate of the rate in the general population) was 5.8%. There were no significant gender differences with respect to parent-of-origin for the deleted chromosome or the incidence of the inversion polymorphism. There was no difference in the rate of spontaneous abortion for mothers heterozygous for the WSCR inversion relative to mothers without the inversion. We calculate that for a parent heterozygous for a WSCR inversion, the chance to have a child with WS is about 1 in 1,750, in contrast to the 1 in 9,500 chance for a parent without an inversion.
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