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Rivista di Medicina Interna
Indexed/Abstracted in: BIOSIS Previews, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,6
Panminerva Medica 1999 September;41(3):265-8
Semen analysis and seminal plasma biochemistry in two brothers with familial reciprocal translocation 46,XY,t(8;9)(p10;p10) transmitted by the father
Mazzilli F., Gelli G. F.*, Rossi T., Carcangiu A., Dondero F.
From the Department of Medical Pathophysiology Laboratory of Seminology and Immunology of Reproduction University of Rome “La Sapienza”, Rome, Italy
* Public Center of Medical Genetic, ASL RM/A, Rome, Italy
Here we report familial balanced translocation 46,XY,t(8;9) (p10;p10) inherited by two brothers from the father. The first subject, 33 years old, was examined after 3 years of childless marriage. Semen analysis showed severe oligozoospermia, hypomotility and teratozoospermia. His brother, 29 years old, volunteered to join this study. He had not yet tried to start a family. Semen analysis showed dyspermia, but the condition was much less serious than his brother’s. In both subjects, the secretory function of the epididymis and the genital tract accessory glands did not seem to be affected by this particular translocation. This case report highlights the importance of cytogenetic analysis in dealing with infertile patients suffering from severe dyspermia apparently sine causa. This is particularly the case when certain Assisted Reproductive Technology (ART) programs are recommended, where natural selection of the sperm no longer takes place (e.g. ICSI). The possible risk of an increase in fetal chromosomal abnormalities would suggest genetic counselling in all such situations.