Advertisement

Normal sperm in a 2;2 homologous male translocation carrier

  • Carolina Almeida
  • Sofia Dória
  • Maria Moreira
  • Joel Pinto
  • Alberto Barros
Genetics

Abstract

Purpose

Carriers of balanced structural chromosomal abnormalities are phenotypically normal but are at high risk of infertility. Translocations usually occur between two non-homologous chromosomes. When occur between homologous chromosomes, an extremely rare event, generally involve acrocentric chromosomes. We present an infertile male referred for genetic analysis with a pure balanced homologous 2;2 translocation and normal sperm in the ejaculate.

Methods

Conventional cytogenetic and fluorescence in situ hybridization (FISH) were used in karyotype and sperm analysis, respectively.

Results

Male’s karyotype revealed a pure balanced translocation involving homologous chromosomes 2: 46,XY,t(2;2)(p23;q21.2). Sperm analysis by FISH revealed the presence of 15.8 % of normal and 84.2 % of abnormal spermatozoa for chromosome 2.

Conclusions

This is the first report of confined gonadal mosaicism in a pure homologous non-acrocentric chromosome translocation carrier. Preimplantation genetic diagnosis for chromosome 2 should be offered as a reproductive option.

Keywords

Confined gonadal mosaicism Homologous chromosome translocation Male infertility Preimplantation genetic diagnosis Sperm analysis 

Notes

Acknowledgments

From the Centre for Reproductive Genetics A. Barros, Porto, we would like to acknowledge Nuno Barros (B.Sc.), Ana Gonçalves (B.Sc.) and Cláudia Osório for spermiogram evaluation. From the Department of Genetics, Faculty of Medicine, Porto, we would like to acknowledge Filomena Reis (B.Sc.), Fernanda Lemos (B.Sc.) and Vânia Ventura (M.Sc.) for lymphocyte cultures and Susana Fernandes (Ph.D.) for AZF and DAZ molecular studies.

References

  1. 1.
    Biricik A, Guney I, Berkil H, Benkhalifa M, Kahraman S. A male (15;15) Robertsonian translocation case with 11 previous consecutive recurrent spontaneous abortions. Marmara Med J. 2004;17(1):35–8.Google Scholar
  2. 2.
    Cinar C, Beyazyurek C, Ekmekci CG, Aslan C, Kahraman S. Sperm fluorescence in situ hybridization analysis reveals normal sperm cells for 14;14 homologous male Robertsonian translocation carrier. Fertil Steril. 2011;95(1):289.e285–9. doi: 10.1016/j.fertnstert.2010.05.033.CrossRefGoogle Scholar
  3. 3.
    Escudero T, Abdelhadi I, Sandalinas M, Munné S. Predictive value of sperm fluorescence in situ hybridization analysis on the outcome of preimplantation genetic diagnosis for translocations. Fertil Steril. 2003;79(Supplement 3):1528–34. doi: 10.1016/S0015-0282(03)00252-8.PubMedCrossRefGoogle Scholar
  4. 4.
    Gersen SL, Keagle MB. The principals of clinical cytogenetics. 2nd ed. New Jersey: Humana; 2005.CrossRefGoogle Scholar
  5. 5.
    Kovaleva NV. Nonmosaic balanced homologous translocations of major clinical significance: some may be mosaic. Am J Med Genet A. 2007;143A(23):2843–50. doi: 10.1002/ajmg.a.31745.PubMedCrossRefGoogle Scholar
  6. 6.
    Kovaleva NV, Shaffer LG. Under-ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes. Am J Med Genet A. 2003;121A(2):180–7. doi: 10.1002/ajmg.a.20156.PubMedCrossRefGoogle Scholar
  7. 7.
    Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update. 2008;14(4):379–90. doi: 10.1093/humupd/dmn017.PubMedCrossRefGoogle Scholar
  8. 8.
    Munné S. Preimplantation genetic diagnosis of structural abnormalities. Mol Cell Endocrinol. 2001;183(Supplement 1):S55–8. doi: 10.1016/S0303-7207(01)00578-0.PubMedCrossRefGoogle Scholar
  9. 9.
    Niikawa N, Ishikawa M. Whole-arm translocation between homologous chromosomes 7 in a woman with successive spontaneous abortions. Hum Genet. 1983;63:85–6. doi: 10.1007/BF00285407.PubMedCrossRefGoogle Scholar
  10. 10.
    Ohama K, Kusumi I, Takahara H, Kajii T. Successive spontaneous abortions including one with whole-arm translocation between chromosomes 2. Hum Genet. 1978;40:221–5. doi: 10.1007/BF00272305.PubMedCrossRefGoogle Scholar
  11. 11.
    Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singap Med J. 2009;50(4):336–47.Google Scholar
  12. 12.
    Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LM, Lüleci G, Schinzel AA. A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet. 1994;54:290–302.PubMedGoogle Scholar
  13. 13.
    Shaffer LG. Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation. Prenat Diagn. 2006;26(4):303–7. doi: 10.1002/pd.1384.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Carolina Almeida
    • 1
  • Sofia Dória
    • 1
  • Maria Moreira
    • 1
  • Joel Pinto
    • 1
  • Alberto Barros
    • 1
    • 2
  1. 1.Department of Genetics, Faculty of MedicineUniversity of PortoPortoPortugal
  2. 2.Centre for Reproductive Genetics A. BarrosPortoPortugal

Personalised recommendations