Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report

Abstract 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) [56]/45,XY,der(13;14) [44] 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.

We are grateful to the patient for his participation in this study. We would also like to acknowledge Luciana Veiga-Castelli for the text revision. This work was supported by CNPq, the National Research Council, DF, Brazil (scholarships to MSJV and CSP) and FAEPA HCRP-USP (grant funding to LM).

We are grateful to the patient for his participation in this study. We would also like to acknowledge Luciana VeigaCastelli for the text revision. This work was supported by CNPq, the National Research Council, DF, Brazil (scholarships to MSJV and CSP) and FAEPA HCRPUSP (grant funding to LM).