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Case Reports
. 2007 Dec 15;143A(24):2910-5.
doi: 10.1002/ajmg.a.31959.

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

Zöe Powis  1 , Sung-Hae L Kang, M Lance Cooper, Ankita Patel, Daniel A Peiffer, Anne Hawkins, Randall Heidenreich, Kevin L Gunderson, Sau W Cheung, Robert P Erickson
Affiliations
Case Reports

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

Zöe Powis et al. Am J Med Genet A. .

Abstract

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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