title: Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.
abstract: BACKGROUND
  Pallister-Killian syndrome (PKS) is a prototypic mosaic aneuploidy syndrome caused by mosaic supernumerary marker isochromosome 12p. Cells possessing the isochromosome 12p rapidly diminish after birth in the peripheral blood, often necessitating a skin biopsy for diagnosis. Therefore, a genomic testing that is capable of detecting low percent mosaic isochromosome 12p is preferred for the diagnosis of PKS.
  
  
  METHODS
  The utility of the droplet digital PCR system in quantifying the mosaic ratio of isochromosome 12p in PKS was evaluated.
  
  
  RESULTS
  Droplet digital PCR was able to precisely quantify isochromosome 12p mosaic ratio, and copy number measured by droplet digital PCR was correlated well with that of fluorescence in situ hybridization analysis.
  
  
  CONCLUSIONS
  Droplet digital PCR should be considered as an effective tool for both clinical and research analytics to precisely quantify mosaic genomic copy number alterations or mosaic mutations.
authors.affiliation: Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences The University of Tokyo Tokyo Japan.
authors.forename: Katsunori
authors.initials: K
authors.lastname: Fujiki
authors.affiliation: Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences The University of Tokyo Tokyo Japan.
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Shirahige
authors.affiliation: Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania.
authors.forename: Maninder
authors.initials: M
authors.lastname: Kaur
authors.affiliation: Division of Human GeneticsThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania; The Perelman School of Medicine at The University of PennsylvaniaPhiladelphiaPennsylvania.
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Deardorff
authors.affiliation: The Perelman School of Medicine at The University of PennsylvaniaPhiladelphiaPennsylvania; Department of Pathology and Laboratory MedicineThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania19104.
authors.forename: Laura K
authors.initials: LK
authors.lastname: Conlin
authors.affiliation: Division of Human GeneticsThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania; The Perelman School of Medicine at The University of PennsylvaniaPhiladelphiaPennsylvania.
authors.forename: Ian D
authors.initials: ID
authors.lastname: Krantz
authors.affiliation: Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences The University of Tokyo Tokyo Japan.
authors.forename: Kosuke
authors.initials: K
authors.lastname: Izumi
keywords: Copy number variation; isochromosome 12p; mosaicism