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).

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Photo of Cinthya Zepeda Mendoza, Ph.D. Cinthya Jeanette Zepeda Mendoza, Ph.D..
Fellow, Laboratory Genetics and Genomics
Mayo Clinic
Photo of Ross Rowsey, Ph.D. Ross Rowsey, Ph.D.
Senior Associate Consultant, Laboratory Genetics and Genomics
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine
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MCL Education

This post was developed by our Education and Technical Publications Team.