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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Cinthya Jeanette Zepeda Mendoza, Ph.D.. Fellow, Laboratory Genetics and Genomics Mayo Clinic |
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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 |