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Human Reproduction, Vol. 15, No. 5, 1121-1124, May 2000
© 2000 European Society of Human Reproduction and Embryology

Chromosome analysis of spermatozoa extracted from testes of men with non-obstructive azoospermia

Renée H. Martin1,2,5, Calvin Greene3, Alfred Rademaker4, Leona Barclay2, Evelyn Ko2 and Judy Chernos1,2

1 Department of Medical Genetics, Faculty of Medicine, University of Calgary, 2 Department of Genetics, Alberta Children's Hospital, 3 Department of Obstetrics and Gynecology, Faculty of Medicine, University of Calgary, Alberta, Canada and 4 Cancer Center Biometry section, Northwestern University, Chicago, Illinois, USA

Infertile men with azoospermia now have the possibility of fathering children by testicular sperm extraction combined with intracytoplasmic sperm injection. However, there are concerns about the risk of chromosomal abnormalities in their spermatozoa. We have studied aneuploidy frequencies for chromosomes 13, 21, X and Y by multicolour fluorescence in-situ hybridization (FISH) in testicular spermatozoa extracted from three men with non-obstructive azoospermia. The men were 34–37 years of age and had normal follicle-stimulating hormone (FSH) concentrations and normal 46,XY somatic karyotypes. A total of 3324 spermatozoa was analysed. The infertile patients had an elevated frequency of disomy for chromosomes 13, 21, XY disomy compared to controls but none of these reached statistical significance. Also there was no significant difference in the sex ratio or the frequency of diploidy in azoospermic patients compared to normal control donors. This first report on chromosomal aneuploidy in spermatozoa extracted from testes of patients with non-obstructive azoospermia suggests that some azoospermic men do not have a substantially increased risk of chromosomally abnormal spermatozoa.

Key words: aneuploidy/azoospermia/chromosome analysis/fluorescence in-situ hybridization/male infertility

5 To whom correspondence should be addressed at: Medical Genetics Clinic, 1820 Richmond Road SW, Calgary, Alberta, Canada T2T 5C7


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