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

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. © 2007 Wiley‐Liss, Inc.

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