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Article

SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

BMC medical genetics - 7 Jul 2015

Magri Chiara, Marchina Eleonora, Bertini Valeria, Traversa Michele, Savio Giulia, Pilotta Alba, Piovani Giovanna

Abstract excerpt

BACKGROUND: In about one third of healthy subjects, the microscopic analysis of chromosomes reveals heteromorphisms with no clinical implications: for example changes in size of the short arm of acrocentric chromosomes. In patients with a pathological phenotype, however, a large acrocentric short arm can mask a genomic imbalance and should be investigated in more detail. We report the first case of a chromosome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26149167
DOI: 10.1186/s12881-015-0193-y
PMCID: PMC4557606

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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