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Article

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.

BMC medical genetics - 2 May 2014

Crippa Milena, Bestetti Ilaria, Perotti Mario, Castronovo Chiara, Tabano Silvia, Picinelli Chiara, Grassi Guido, Larizza Lidia, Pincelli Angela Ida, Finelli Palma

Abstract excerpt

BACKGROUND: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterised by distinctive craniofacial and skeletal abnormalities. TRPS is generally associated with mutations in the TRPS1 gene at 8q23.3 or microdeletions of the 8q23.3-q24.11 region. However, three deletions affecting the same chromosome region and a familial translocation t(8;13) co-segregating with TRPS, which...

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Identifiers

PMID: 24886451
DOI: 10.1186/1471-2350-15-52
PMCID: PMC4081657

Genes

TRPS1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.PMID 24886451Read ↗

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A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literatureSemantic proximity Read ↗

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