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Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes

29 Dec 2012

Abstract excerpt

Somatic mosaicism is present in slightly more than 50% of small supernumerary marker chromosome (sSMC) carriers. Interestingly, non-acrocentric derived sSMC show mosaicism much more frequently than acrocentric ones. sSMC can be present in different mosaic rates, which may go below 5% of the studied cells. Also cryptic mosaicism can be present and mosaics may be differently expressed in different tissues of the...

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PMID: 23295254
DOI: 10.1159/000346026

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