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Unbalanced Chromosome Analysis of Sperm in a case of 46,XY,inv(7) (p13q11) by Fluorescence in situ hybridization

  

  • Received:2011-07-19 Revised:2011-10-28 Published:2012-02-15 Online:2012-02-15

Abstract: Abstract Objective: To explore the flourence of pericentric inversion on spermatozoa chromosome. Methods:Fluorescence in situ hybridization(FISH) with TelVysion 7q、TelVysion 7p probes on 1000 spermatozoa for a 46,XY,inv(7) (p13q11) carrier. Results:The FISH analysis using the specific probes for the pericentric inversion indicated high disequilibrium(25.2%),while the normal men with 1.2%. Conclusion: Pericentric inversion is associated with a high risk of recombination sperm.It is difficult for chromosomally unbalenced embryos to implantation.Even if the abnormal embryo is conceived,it is tended to be miscarriaged at the early pregnancy.To improve the rate of pregnancy and reduce abortion,it is very important for couples with men heterozygous for this inversion to proceed preimplantation genetic diagnosis(PGD).

Key words: heterozygous pericentric inversion, FISH, spermatozoa, unbalanced chromosome, epididymal puncture