Kamilla Schlade-Bartusiak

PhD, FCCMG

Investigator, BC Children's Hospital

Chromosomal Microarry (CMA) is a technique enabling high-resolution, genome-wide screening of chromosomal imbalances. It has become and essential and routine diagnostic tool gradually replacing the lower resolution karyotype analysis. It allows for delineation of novel recurrent microdeletion/microduplication syndromes. SNP-based CMA technology allows also for detection of copy number neutral phenomena, like uniparental disomy and regions of homozygosity. As a cytogeneticist, I am interested in clinical and research applications of array technology. That includes better characterization of known and novel syndromes caused by chromosomal aberrations, as well as disease gene discovery.