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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

Periodicità: Trimestrale

ISSN 0031-0808

Online ISSN 1827-1898


Panminerva Medica 1999 Settembre;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.

lingua: Inglese


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