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Article

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.

Genome research - 1 Jul 2015

Weckselblatt Brooke, Hermetz Karen E, Rudd M Katharine

Abstract excerpt

Unbalanced translocations are a relatively common type of copy number variation and a major contributor to neurodevelopmental disorders. We analyzed the breakpoints of 57 unique unbalanced translocations to investigate the mechanisms of how they form. Fifty-one are simple unbalanced translocations between two different chromosome ends, and six rearrangements have more than three breakpoints involving two to five...

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Share to Chromosome Aberrations
Share to Chromosome Banding
Share to Chromosome Breakage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Mapping

Share to DNA Copy Number Variations

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Share to In Situ Hybridization, Fluorescence

Share to Translocation, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 26070663
DOI: 10.1101/gr.191247.115
PMCID: PMC4484391

Genes

MTA1
PIEZO2
PROX1
SMOC2
WWOX

Provenance

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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