PURPOSE: To analyse relationships between semen parameters, sperm chromatin integrity and frequencies of chromosomally unbalanced, disomic and diploid sperm in 13 Robertsonian and 37 reciprocal translocation carriers and to compare the results with data from 10 control donors. METHODS: Conventional semen analysis, Sperm Chromatin Structure Assay and FISH with probes for chromosomes involved in the individual translocations and for chromosomes X, Y, 7, 8, 13, 18 and 21. RESULTS: Normal semen parameters were found in 30.8 % of Robertsonian and 59.5 % of reciprocal translocation carriers. The rates of unbalanced sperm were 12.0 % in Robertsonian and 55.1 % in reciprocal translocation carriers with no difference between normospermic patients and those showing altered semen parameters. Significantly increased frequencies of spermatozoa showing defects in chromatin integrity and condensation, aneuploidy for chromosomes not involved in a translocation and diploidy were detected in translocation carriers with abnormal semen parameters. Normospermic reciprocal translocation carriers showed an increase in chromosome 13 disomy compared to the control group. There was no relationship between gametic and somatic aneuploidy in 12 translocation carriers studied by FISH on sperm and lymphocytes. The frequency of motile sperm was negatively correlated with the frequency of sperm showing disomy, diploidy and defective chromatin condensation. CONCLUSIONS: Abnormal semen parameters can serve as indicators of an additional risk of forming spermatozoa with defective chromatin and aneuploidy in translocation carriers.

• MeSH
• Semen Analysis MeSH
• Aneuploidy MeSH
• Chromatin genetics   MeSH
• Adult MeSH
• Heterozygote MeSH
• In Situ Hybridization, Fluorescence MeSH
• Karyotyping MeSH
• Middle Aged MeSH
• Humans MeSH
• Chromosomes, Human, X MeSH
• Chromosomes, Human, Pair 13 MeSH
• Chromosomes, Human, Pair 18 MeSH
• Chromosomes, Human, Y MeSH
• Infertility, Male genetics   MeSH
• Chromosome Segregation MeSH
• Semen cytology   MeSH
• Spermatozoa cytology   MeSH
• Translocation, Genetic genetics   MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Names of Substances
• Chromatin MeSH

PURPOSE: To determine the percentage of unbalanced spermatozoa and an interchromosomal effect in two carriers of balanced translocations t(13;15)(q32;q26) and t(13;15)(q32;p11.2). METHODS: Sperm nuclei analysis by fluorescent in situ hybridization for detection of percentage of unbalanced spermatozoa and sperm with disomy of chromosomes X, Y, 8, 18, 21 and diploidy. RESULTS: The incidence of unbalanced spermatozoa was 50.5 % and 44.6 % in patient 1 (P1) and patient 2 (P2), respectively. Partial disomy of chromosome 13 was detected in 13.4 % and 21.3 % of sperm in P1 and P2, respectively. The unbalanced karyotype der(15)t(13;15) was found previously in a son of P1 and in two adult relatives, and prenatally in the family of P2. This demonstrates a high risk of delivering an affected offspring. Significantly increased frequencies of chromosomes 8, 18, X and XY disomy and diploidy were observed in P2, which might either indicate an interchromosomal effect or be related to his asthenoteratozoospermia. CONCLUSIONS: Since the proportions of unbalanced spermatozoa and the risk of delivering an affected offspring are high, prenatal or preimplantation genetic diagnosis is recommended for such patients.

• MeSH
• Aneuploidy * MeSH
• Adult MeSH
• In Situ Hybridization, Fluorescence MeSH
• Karyotype MeSH
• Humans MeSH
• Chromosomes, Human, Pair 13 genetics   MeSH
• Chromosomes, Human, Pair 15 genetics   MeSH
• Meiosis MeSH
• Prenatal Diagnosis MeSH
• Chromosome Segregation genetics   MeSH
• Spermatozoa physiology   MeSH
• Translocation, Genetic * MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH
• Research Support, Non-U.S. Gov't MeSH