| Literature DB >> 18000900 |
Zöe Powis1, 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.
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. (c) 2007 Wiley-Liss, Inc.Entities:
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Year: 2007 PMID： 18000900 DOI： 10.1002/ajmg.a.31959
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802