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A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Front Genet · 2024 · PMC10961358 · PMID 38528911

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a clear trendno p-value reported
Nevertheless, there is a clear trend that the larger the euchromatin region that an sSMC contains, the stronger the pathogenic effect associated with its presence.

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