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Article

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

European journal of human genetics : EJHG - 1 Jan 2008

Barber John C K, Maloney Viv K, Huang Shuwen, Bunyan David J, Cresswell Lara, Kinning Esther, Benson Anna, Cheetham Tim, Wyllie Jonathan, Lynch Sally Ann, Zwolinski Simon, Prescott Laura, Crow Yanick, Morgan Rob, Hobson Emma

Abstract excerpt

The 8p23.1 deletion syndrome is established but not an equivalent duplication syndrome. Here, we report five patients; a de novo prenatal case and two families in which 8p23.1 duplications have been directly transmitted from mothers to children. Dual-colour fluorescent in situ hybridisation, multiplex ligation-dependent probe amplification analysis and customised oligonucleotide array comparative genomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17940555
DOI: 10.1038/sj.ejhg.5201932

Genes

GATA4

Provenance

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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