
ROLE OF CHROMOSOMES IN EMBRYO DEVELOPMENT Geraedts JPM* *Corresponding Author: Professor Dr. Joep P.M. Geraedts, Department of Genetics and Cell Biology, University of Maastricht, P.O. Box 1475, 6201 BL Maastricht, The Netherlands; Tel.: +31-43-3875840; Fax: +31-43-3877877; E-mail: joep.geraedts@gen.unimaas.nl page: 3
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ANEUPLOIDY IN SPERMATOZOA
Using FISH, different percentages of disomy for the different chromosomes have been observed. The median value for all chromosomes reported is about 0.3% [29]. The large variations observed between studies can be attributed to technical factors such as decondensation and denaturation of the DNA in the specimen and distortion of the morphology after pretreatment. If 0.3% is truly representative for the disomy rate among all the 23 chromosomes in sperm, an overall rate of 7% would be found using the FISH technique. This figure agrees with that found using the zona free hamster technique [30,31]. Besides technical factors to explain a proportion of the variation observed, there may also be differences between patients. Recent studies have shown that the percentage of numerical abnormalities is significantly increased in patients with abnormal semen characteristics [32,33]. When FISH was performed on sperm samples from 20 couples who had experienced three or more recurrent first trimester abortions, a high rate of sperm disomy (14.5-15.5%) was scored in two cases [34].
A higher incidence of numerical chromosome abnormalities in sperm has also been detected in intracytoplasmatic sperm injection (ICSI) zygotes [35]. Finally, sperm of non obstructive azoospermic men had a higher incidence of chromosome abnormalities, which was predominantly in the sex chromosomes [36].
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