Male infertility related to an aberrant karyotype, 46,XY,9ph,9qh+

Objective To report a man with primary infertility and variant karyotype. Design Case report. Setting Private practice. Patient(s) A 37-year-old man with 4 years of primary infertility due to oligoasthenozoospermia. Intervention(s) None. Main Outcome Measure(s) G- and C-banding. Polymerase chain reaction for SRY, DBY, RBMY, DAZ, AMELX, and AMELY . Result(s) G-band analysis of the proband revealed a 46,XY,9ph,9qh+ karyotype. C-banding confirmed increase in the heterochromatin in one chromosome 9 and inversion in the other. Conclusion(s) The morphologic difference between the homologous chromosomes 9 may have been responsible for an error in crossing-over, leading to aberrant spermatozoa and consequently to infertility.