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Juchniuk de Vozzi MS, Santos SA, Pereira CS, et al. Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report. Mol Cytogenet. 2009;2:24doi: 10.1186/1755-8166-2-24.
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, 224. https://doi.org/10.1186/1755-8166-2-24
Juchniuk de Vozzi, Maria S, et al. "Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report." Molecular cytogenetics vol. 2 (2009): 24. doi: https://doi.org/10.1186/1755-8166-2-24
Juchniuk de Vozzi MS, Santos SA, Pereira CS, Cuzzi JF, Laureano LA, Franco JG, Martelli L. Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report. Mol Cytogenet. 2009 Dec 01;2:24. doi: 10.1186/1755-8166-2-24. PMID: 19951420; PMCID: PMC2796650.
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Mol Cytogenet. 2009 Dec 01;2:24. doi: 10.1186/1755-8166-2-24.

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

Molecular cytogenetics

Maria S Juchniuk de Vozzi, Silvio A Santos, Ciro S Pereira, Juliana F Cuzzi, Lucimar Af Laureano, José G Franco, Lucia Martelli

Affiliations

  1. Department of Genetics, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil. [email protected].

PMID: 19951420 PMCID: PMC2796650 DOI: 10.1186/1755-8166-2-24

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.

References

  1. Eur J Hum Genet. 1999 Feb-Mar;7(2):231-8 - PubMed
  2. Lancet. 1997 Mar 15;349(9054):787-90 - PubMed
  3. J Cell Sci. 2001 Aug;114(Pt 16):2953-65 - PubMed
  4. Pediatrics. 1963 Sep;32:326-37 - PubMed
  5. Cytogenet Cell Genet. 1998;83(3-4):275-80 - PubMed
  6. Prenat Diagn. 2000 Jul;20(7):599-602 - PubMed
  7. Cytogenet Genome Res. 2005;111(3-4):245-9 - PubMed
  8. Hum Genet. 1988 Dec;80(4):357-61 - PubMed
  9. Cytogenet Genome Res. 2005;111(3-4):291-6 - PubMed
  10. Nat Rev Genet. 2001 Apr;2(4):280-91 - PubMed
  11. Hum Genet. 1995 Dec;96(6):655-60 - PubMed
  12. Fertil Steril. 2005 Aug;84(2):365-73 - PubMed
  13. Hum Reprod. 2007 Jan;22(1):142-50 - PubMed
  14. Am J Hum Genet. 1997 Sep;61(3):651-9 - PubMed
  15. Hum Reprod. 2004 Jun;19(6):1345-51 - PubMed
  16. Hum Reprod. 2001 Jun;16(6):1155-64 - PubMed
  17. Hum Reprod. 2000 Feb;15(2):351-65 - PubMed
  18. J Assist Reprod Genet. 2007 Sep;24(9):406-11 - PubMed
  19. Cytogenet Cell Genet. 1984;38(1):14-22 - PubMed
  20. Hum Reprod. 2005 Jul;20(7):1850-4 - PubMed
  21. Cytogenet Cell Genet. 1989;52(3-4):105-10 - PubMed
  22. Hum Genet. 2001 Jan;108(1):31-6 - PubMed
  23. Am J Med Genet A. 2009 Aug;149A(8):1706-11 - PubMed
  24. Int J Androl. 2004 Aug;27(4):200-12 - PubMed
  25. Mol Hum Reprod. 1997 Jul;3(7):585-98 - PubMed
  26. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R203-8 - PubMed
  27. Environ Mol Mutagen. 1999;33(1):49-58 - PubMed
  28. Clin Genet. 2000 Oct;58(4):324-8 - PubMed
  29. Hum Genet. 1999 May;104(5):412-7 - PubMed
  30. Fertil Steril. 1995 Oct;64(4):811-7 - PubMed
  31. Hum Reprod. 2001 Nov;16(11):2274-7 - PubMed
  32. Reproduction. 2001 May;121(5):655-66 - PubMed
  33. Hum Genet. 1987 Jun;76(2):116-20 - PubMed
  34. Hum Genet. 1994 May;93(5):502-6 - PubMed
  35. Hum Genet. 2000 Feb;106(2):188-93 - PubMed
  36. Ann Genet. 1979;22(4):210-3 - PubMed
  37. Mol Hum Reprod. 2001 May;7(5):483-8 - PubMed

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