{
  "abstract": "Pallister-Killian syndrome (PKS) is a rare and severe genetic disorder characterised by multiple birth defects including hypotonia, intellectual disability and dysmorphic features. It is associated with the presence of a supernumerary marker chromosome that consists of two copies of the short arm of chromosome 12, existing as an isochromosome.The isochromosome is typically observed in the mosaic state alongside a normal cell line thus inferring tetrasomy 12p mosaicism. This mosaicism is tissue specific with the percentage of cells with i(12p) varying depending on the tissue examined. In rapidly dividing T-lymphocytes, cells with the i(12p) are replaced by euploid cells,1 whereas mosaicism rates of skin fibroblasts, amniotic cells and chorionic villus tend to be higher.2 This has important implications for diagnostic testing in terms of the origin of the tissue selected and type of genetic test used.Here, we review the diagnostic testing of PKS within our laboratory over a ten year period. We discuss the advantages and limitations of current best practice guidelines and in particular we discuss whether CVS samples with PKS clinical phenotype should always have a follow up amniocentesis if normal.",
  "authors": [
    {
      "affiliations": [
        "Cytogenetics Department, Health Services Laboratories"
      ],
      "name": "Kelsey Gibbs"
    },
    {
      "affiliations": [
        "Cytogenetics Department, Health Services Laboratories"
      ],
      "name": "A Daffern"
    }
  ],
  "title": "P11 The identification of pallister-killian syndrome in different tissue types by array-CGH and karyotype",
  "uid": "61ff6ae8-a488-5048-9bb4-e6c9f9e68867"
}