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

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.
AuthorsZöe Powis, 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
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 143A Issue 24 Pg. 2910-5 (Dec 15 2007) ISSN: 1552-4833 [Electronic] United States
PMID18000900 (Publication Type: Case Reports, Journal Article)
Copyright(c) 2007 Wiley-Liss, Inc.
Chemical References
  • DNA
Topics
  • Abnormalities, Multiple (diagnosis, genetics)
  • Aneuploidy
  • Chromosome Aberrations
  • Chromosome Disorders (genetics)
  • Chromosomes, Human, Pair 12
  • Cytogenetic Analysis
  • DNA (genetics)
  • Facies
  • Gene Duplication
  • Humans
  • Infant
  • Male
  • Mosaicism
  • Nucleic Acid Hybridization
  • Sequence Analysis, DNA

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