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Article

Pathogenesis of vestibular schwannoma in ring chromosome 22.

BMC medical genetics - 22 Sept 2009

Denayer Ellen, Brems Hilde, de Cock Paul, Evans Gareth D, Van Calenbergh Frank, Bowers Naomi, Sciot Raf, Debiec-Rychter Maria, Vermeesch Joris V, Fryns Jean-Pierre, Legius Eric

Abstract excerpt

BACKGROUND: Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. The pathogenesis of these tumours is not always clear yet. METHODS: We report on a female patient with a ring chromosome 22 presenting with severe mental retardation, autistic behaviour,...

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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: 19772601
DOI: 10.1186/1471-2350-10-97
PMCID: PMC2758865

Provenance

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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