Pksonline.org

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1. Background: also called Killian/Teschler-Nicola Syndrome, Pallister Mosaic Syndrome, Tetrasomy 12p, Killian Syndrome, Teschler-Nicola/ Killian Syndrome; the phenotypic features are due to the presence of four copies of chromosome 12p in affected cells; the presence of the isochromosome 12p gives 4 copies of chromosome 12p in the affected cells
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