Chromosome aberrations contribute significantly to human disease. Close collaboration between our clinical and research cytogenetics laboratories contributes to a better understanding of specific chromosome regions and chromosome abnormalities, in particular, their structure, origin, segregation, stability, contribution to fetal development and survival, and impact on clinical genetics, including cancer. In collaboration with other laboratories at OHSU, we have a specific focus on the molecular biology of Fanconi anemia, an autosomal recessive disorder of DNA repair which has the classic finding of chromosome instability. In addition, use of well-defined chromosome abnormalities leads to fine mapping of known genes and arbitrary sequences. Investigation of all of the above areas requires utilization of the following state-of-the-art tools: high resolution chromosomes, multiple staining techniques, fluorescent in situ hybridization (FISH) and family linkage studies by chromosome heteromorphism analysis, Southern blotting and PCR.

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