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Article

Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.

Human genetics - 1 Aug 2005

Scherer Stephen W, Gripp Karen W, Lucena Jaume, Nicholson Linda, Bonnefont Jean-Paul, Pérez-Jurado Luis A, Osborne Lucy R

Abstract excerpt

The Williams-Beuren syndrome (WBS) region at 7q11.23 is subject to several genomic rearrangements, one of which, the WBSinv-1 variant, is an inversion polymorphism. The WBSinv-1 chromosome has been shown to occur frequently in parents of individuals with WBS, implying that it predisposes the region to the WBS deletion. Here we investigate two WBS families with multiple affected children, and show that in one...

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Identifiers

PMID: 15933846
DOI: 10.1007/s00439-005-1325-9
PMCID: PMC2896963

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.PMID 15933846Read ↗

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.Semantic proximity Read ↗

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.Semantic proximity Read ↗

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Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.Semantic proximity Read ↗

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