June 2019 — Laboratory Genetics and Genomics
A 28-year-old male was referred to the Cytogenetics laboratory due to a history of a partner with multiple miscarriages. Chromosome analysis of peripheral blood revealed a normal karyotype 46,XY (Figure 1), but nine metaphases also showed gaps at 16q23 (Figure 2).
|Cinthya Jeanette Zepeda Mendoza, Ph.D..
Fellow, Laboratory Genetics and Genomics
|Ross Rowsey, Ph.D.
Senior Associate Consultant, Laboratory Genetics and Genomics
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine