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Article

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.

BMC medical genomics - 11 Feb 2013

Ciocca Laura, Surace Cecilia, Digilio Maria Cristina, Roberti Maria Cristina, Sirleto Pietro, Lombardo Antonietta, Russo Serena, Brizi Valerio, Grotta Simona, Cini Claudio, Angioni Adriano

Abstract excerpt

BACKGROUND: Ring chromosome 6 is a rare constitutional abnormality that generally occurs de novo. The related phenotype may be highly variable ranging from an almost normal phenotype to severe malformations and mental retardation. These features are mainly present when genetic material at the end of the chromosome is lost. The severity of the phenotype seems to be related to the size of the deletion. About 25...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23398904
DOI: 10.1186/1755-8794-6-3
PMCID: PMC3599180

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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