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Article

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

American journal of medical genetics. Part A - 1 Dec 2015

Dutra Roberta L, Piazzon Flavia B, Zanardo Évelin A, Costa Thais Virginia Moura Machado, Montenegro Marília M, Novo-Filho Gil M, Dias Alexandre T, Nascimento Amom M, Kim Chong Ae, Kulikowski Leslie D

Abstract excerpt

Williams-Beuren syndrome (WBS) is caused by a hemizygous contiguous gene microdeletion of 1.55-1.84 Mb at 7q11.23 region. Approximately, 28 genes have been shown to contribute to classical phenotype of SWB with presence of dysmorphic facial features, supravalvular aortic stenosis (SVAS), intellectual disability, and overfriendliness. With the use of Microarray-based comparative genomic hybridization and other...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26420477
DOI: 10.1002/ajmg.a.37360

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.PMID 26420477Read ↗

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