A 30-year-old woman suffers a miscarriage, and the product of conception is sent for cytogenetic testing to rule out cytogenetic abnormalities. A chromosomal microarray performed on placental tissue reveals large events on chromosome 8, a deletion of distal p-arm material, and duplication of the proximal p-arm through the distal q-arm. Banded chromosomal analysis was then performed on cultured cells from the original specimen. 1/18 cells showed an isodicentric chromosome 8 while remaining 17/18 cells were 46,XX.
|Matthew Schultz, Ph.D.
Fellow, Laboratory Genetics and Genomics
Erik Thorland, Ph.D.
Consultant, Laboratory Genetics and Genomics
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science