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Article

Early embryonic chromosome instability results in stable mosaic pattern in human tissues.

PloS one - 9 Mar 2010

Mkrtchyan Hasmik, Gross Madeleine, Hinreiner Sophie, Polytiko Anna, Manvelyan Marina, Mrasek Kristin, Kosyakova Nadezda, Ewers Elisabeth, Nelle Heike, Liehr Thomas, Volleth Marianne, Weise Anja

Abstract excerpt

The discovery of copy number variations (CNV) in the human genome opened new perspectives on the study of the genetic causes of inherited disorders and the aetiology of common diseases. Here, a single-cell-level investigation of CNV in different human tissues led us to uncover the phenomenon of mitotically derived genomic mosaicism, which is stable in different cell types of one individual. The CNV mosaic ratios...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20231887
DOI: 10.1371/journal.pone.0009591
PMCID: PMC2834743

Provenance

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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