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Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2012

Levy Brynn, Tegay David, Papenhausen Peter, Tepperberg James, Nahum Odelia, Tsuchida Tammy, Pletcher Beth A, Ala-Kokko Leena, Baker Stuart, Frederick Barbara, Hirschhorn Kurt, Warburton Peter, Shanske Alan

Abstract excerpt

PURPOSE: The aim of this study was to characterize the clinical phenotype of patients with tetrasomy of the distal 15q chromosome in the form of a neocentric marker chromosome and to evaluate whether the phenotype represents a new clinical syndrome or is a phenocopy of Shprintzen-Goldberg syndrome. METHODS: We carried out comprehensive clinical evaluation of four patients who were identified with a supernumerary...

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PMID: 22653535
DOI: 10.1038/gim.2012.54

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

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