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Article

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.

American journal of medical genetics. Part A - 1 Nov 2011

Giorda Roberto, Beri Silvana, Bonaglia M Clara, Spaccini Luigina, Scelsa Barbara, Manolakos Emmanouil, Della Mina Erika, Ciccone Roberto, Zuffardi Orsetta

Abstract excerpt

Rare intrachromosomal triplications producing partial tetrasomies have been reported for a number of chromosomes. A detailed molecular characterization, necessary to define the mechanism of their formation, has so far been lacking. We report on the detailed clinical, cytogenetic, and molecular characterization of two triplications, one de novo involving chromosome 18q, the other familial on chromosome Xp. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21965167
DOI: 10.1002/ajmg.a.34248

Genes

VCX

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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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