Journal of Andrology
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Published-Ahead-of-Print October 4, 2006, DOI:10.2164/jandrol.106.000919

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The analysis of meiotic segregation patterns and aneuploidy in the spermatozoa of father and son with translocation t(4;5)(p15.1;p12) and the prediction of the individual probability rate for unbalanced progeny at birth

Ewa Wiland , Alina Midro , Barbara Panasiuk , and Maciej Kurpisz *

* To whom correspondence should be addressed. E-mail: kurpimac{at}man.poznan.pl.

Reciprocal chromosome translocations (RCT) have long been recognized as important etiological factors in reproductive failure. In this study we performed, the meiotic segregation pattern in the spermatozoa of two related t(4;5)(p15.1;p12) carriers (proband and his father) which was then compared to the empirical data of three-generations pedigree for risk assessment. A cytogenetic analysis of metaphase chromosomes was performed, and triple colour FISH was applied on sperm heads. Similar patterns of meiotic segregation were observed in both carriers despite the fact that teratozoospermia was found in the proband but not in his father. In addition, an increase of aneuploidy in chromosome 15 in the proband and aneuploidy of chromosomes X and Y in the father were observed. The high rate of miscarriages (6 out of 10 pregnancies and 4 out of 7 pregnancies after ascertainment correction) in this family could be explained by the genetically unbalanced karyotype and fertilization mediated by the unbalanced spermatozoa identified in both studied men with a frequency higher than 60%. The risk assessment for unfavorable pregnancy outcomes was predicted as 1.6% for unbalanced progeny at birth and about 30% for miscarriage. These figures may be proposed for the genetic counseling of families with similar RCT.


Key words: Fertility • Infertility • Reproductive Genetics • Spermatogenesis • FISH • meiotic segregation pattern • risk assessment




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