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

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

Molecular cytogenetics (2009-12-03)
Maria S Juchniuk de Vozzi, Silvio A Santos, Ciro S Pereira, Juliana F Cuzzi, Lucimar Af Laureano, José G Franco, Lucia Martelli
ABSTRACT

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. 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). 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.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Pepsin from porcine gastric mucosa, powder, ≥250 units/mg solid
Sigma-Aldrich
Pepsin from porcine gastric mucosa, lyophilized powder, ≥3,200 units/mg protein
Sigma-Aldrich
Pepsin from porcine gastric mucosa, lyophilized powder, ≥2,500 units/mg protein (E1%/280)
Sigma-Aldrich
Pepsin from porcine gastric mucosa, powder, ≥400 units/mg protein