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Article

Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family.

Cytogenetic and genome research - 1 Jan 2012

Belangero S I, Pacanaro A N X, Bellucco F T, Christofolini D M, Kulikowski L D, Guilherme R S, Bortolai A, Dutra A R N, Piazzon F B, Cernach M C, Melaragno M I

Abstract excerpt

A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs...

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

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Identifiers

PMID: 22890013
DOI: 10.1159/000341570

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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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