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Article

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 - 15 May 2010

Hobart Holly H, Morris Colleen A, Mervis Carolyn B, Pani Ariel M, Kistler Doris J, Rios Cecilia M, Kimberley Kendra W, Gregg Ronald G, Bray-Ward Patricia

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Share to Repetitive Sequences, Nucleic Acid

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Source

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Identifiers

PMID: 20425783
DOI: 10.1002/ajmg.c.30258
PMCID: PMC2946898

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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.

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