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

作者：Juchniuk de Vozzi Maria S; Santos Silvio A; Pereira Ciro S; Cuzzi Juliana F; Laureano Lucimar A F; Franco Jose G Jr; Martelli Lucia^*

来源：Molecular Cytogenetics, 2009, 2(1): 24.

DOI：10.1186/1755-8166-2-24

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.

• 出版日期2009