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.