Erik C. Thorland, Ph.D.

Closed for Enrollment

• Copy Number Variation (CNV) Atlas of Human Development Rochester, Minn.

  As a member of the ISCA Consortium, Mayo Cytogenetics Laboratory plans to contribute to the ISCA Clinical CNV Database by routinely submitting limited datasets of prospective patient genotype and phenotype information collected during routine clinical care.  We will also utilize the database to improve reporting of clinical test results and to better advise clinicians as to the clinical significance of CNVs detected in their patients

• Gene Disruption or Dysregulation in Apparently Balanced Chromosomal Rearrangements Rochester, Minn.

  The purpose of this study is to attempt to identify potential disruptions of genes at chromosome rearrangement breakpoints only detectable by advanced technologies and to correlate those findings with physical features found in the individuals.