Abstract for presentation at 11th International Congress of Human Genetics

SNP-GeneChip based copy number assessment improves the resolution of chromosomal abnormalities

  • Ms Marylou Doody, Mater Pathology, Mater Health Services, Brisbane, Australia
  • Mr Gareth Price, Mater Medical Research Institute, Brisbane, Australia
  • Dr David Cowley, Mater Pathology, Mater Health Services, Brisbane, Australia
  • A/Prof Deon Venter, Mater Pathology, Mater Health Services, Brisbane, Australia

    • Constitutional and acquired chromosome abnormalities make a significant contribution to human morbidity and mortality. Conventional cytogenetic studies using light microscopy-based karyotyping of metaphase cells together with FISH on interphase nuclei provide significant diagnostic and prognostic value in these cases. These conventional cytogenetics techniques are robust, and currently are the cheapest and most comprehensive full genome screen available in the diagnostic laboratory. However, the resolution of these current methodologies is limited to 3-5Mb and is thus not capable of detecting very small deletions, duplications, and subtle translocations. We have recently developed a microarray-based analysis based on the high-density Affymetrix SNP array and the CNAG copy number tool (Price et al, (2006) poster presentation). We used this system to evaluate a series of 8 known cytogenetically abnormal cases in an attempt to more accurately delineate their breakpoint boundaries. We will present the finding in these cases, which include i(18p), del(20p), PWS, del(1p) and del(6q).

    Conference Organiser - ICMS Pty Ltd