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Article

Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood.

European journal of medical genetics - 1 Jan 2000

Pal Chandni V, Eble Tanya N, Burnside Rachel D, Bi Weimin, Patel Ankita, Franco Luis M

Abstract excerpt

Chromosomal microarray analysis (CMA) has significantly increased the ability to diagnose medical conditions caused by copy-number variation in the human genome. Given that the regions involved in copy-number abnormalities often encompass multiple genes, it has been common practice in recent years to compare the phenotypes of individuals with specific copy-number alterations identified by CMA, with the goal of...

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Identifiers

PMID: 24636861
DOI: 10.1016/j.ejmg.2014.03.001
PMCID: PMC6859793

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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