Background. Infertility is a natural mechanism of selection intended to prevent the delivery of a child with malformations or mental retardation. Male infertility is closely related to chromosomal abnormalities. This study was focused on the analysis of meiotic segregation involving a Robertsonian translocation, 45,XY,der(13;13) /45,XY,der(13;14)  and the evaluation of possible interchromosomal effects. Results. Hybridisation with LSI 13q14 and subtelomere 14q probes and WCP13 SpectrumGreen and WCP14 SpectrumOrange probes showed a high proportion of unbalanced gametes, corresponding to 71.2% of the spermatozoa. The disomic frequencies of the sexual chromosomes and chromosome 18 of the patient were higher (5.28% and 2.55%, respectively) than those of the control (0.6% and 0.59%, respectively). Conclusion. Meiotic segregation studies in sperm are an important tool for genetic counselling of chromosomal aberrations, allowing for a prediction of the risks and consequent implications for the reproductive life. The patient with this rare translocation exhibited meiotic segregation fidelity, and a high rate of unbalanced gametes with disomic spermatozoa. © 2009 Juchniuk de Vozzi et al; licensee BioMed Central Ltd.
Juchniuk De Vozzi, M. S., Santos, S. A., Pereira, C. S., Cuzzi, J. F., Laureano, L. A., Franco, J. G., & Martelli, L. (2009). Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: A case report. Molecular Cytogenetics, 2(1). https://doi.org/10.1186/1755-8166-2-24