A 33-year-old man presented with a history of infertility. A blood sample was submitted to the laboratory for molecular analysis of Y chromosome microdeletions. Analysis of Y chromosome markers by polymerase chain reaction (PCR) (Fig. 1) produced the results seen in Fig. 2 for the AZFa, AZFb, and AZFc regions. Subsequent chromosome analysis was performed, and a representative karyogram is shown in Fig. 3.
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Cinthya Zepeda Mendoza, Ph.D.
Fellow, Laboratory Genetics and Genomics
Kandelaria Rumilla, M.D.
Consultant, Laboratory Genetics and Genomics
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine
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