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Article

Mosaic tetrasomy 12p with triplication of 12p detected by array‐based comparative genomic hybridization of peripheral blood DNA

14 Nov 2007

Abstract excerpt

A patient whose dysmorphism at birth was not diagnostic for Pallister-Killian syndrome (PKS) was found to have mosaic tetrasomy 12p by an array-based comparative genomic hybridization of peripheral blood DNA. He was determined to be mosaic for 46,XY,trp(12)(p11.2 --> p13) in cultured skin fibroblasts. His appearance was typical for PKS at 4 months of age.

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PMID: 18000900
DOI: 10.1002/ajmg.a.31959

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