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

Am J Med Genet A. 2007 Dec 15;143A(24):2910-5. doi: 10.1002/ajmg.a.31959.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / 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

Substances

  • DNA