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Am J Med Genet A. 2007 Dec 15;143A(24):2910-5.

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

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1
Section of Medical and Molecular Genetics, Department of Pediatrics, University of Arizona, Tucson, Arizona, USA.

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.

PMID:
18000900
DOI:
10.1002/ajmg.a.31959
[Indexed for MEDLINE]
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