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Human Fertility
an international, multidisciplinary journal dedicated to furthering research and promoting good practice
Volume 16, 2013 - Issue 4
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Origins of genetic variation

The origins of genetic variation between individual human oocytes and embryos: implications for infertility

Pages 241-245 | Received 16 Apr 2013, Accepted 24 Jul 2013, Published online: 28 Oct 2013

References

  • Alfarawati, S., Fragouli, E., Colls, P., & Wells, D. (2012). Embryos of robertsonian translocation carriers exhibit a mitotic interchromosomal effect that enhances genetic instability during early development. PLoS Genetics, 8: e1003025. doi:10.1371/journal.pgen.1003025. Epub 2012 Oct 25. PubMed PMID: 23133396; PubMed Central PMCID: PMC3486902.
  • Angell, R.R. (1991). Predivision in human oocytes at meiosis I: a mechanism for trisomy formation in man. Human Genetics, 86, 383–387.
  • Burgoyne, P.S., Mahadevaiah, S.K., & Turner, J.M. (2009). The consequences of asynapsis for mammalian meiosis. Nature Reviews Genetics, 10, 207–216.
  • Delhanty, J.D., Griffin, D.K., Handyside, A.H., Harper, J., Atkinson, G.H., Pieters, M.H., & Winston, R.M. (1993). Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation (FISH). Human Molecular Genetics, 2, 1183–1185.
  • Delhanty, J.D., Harper, J.C., Ao, A., Handyside, A.H., & Winston, R.M. (1997). Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Human Genetics, 99, 755–760.
  • Delhanty, J.D. (2011). Inherited aneuploidy: germline mosaicism. Cytogenetics and Genome Research, 133, 136–140.
  • Evsikov, S. & Verlinsky, Y. (1998). Mosaicism in the inner cell mass of human blastocysts. Human Reproduction, 13, 3151–3155.
  • Fonseka, K.G.L. & Griffin, D.K. (2011). Is there a paternal age effect for aneuploidy?. Cytogenetics and Genome Research, 133, 280–291.
  • Fragouli, E., Wells, D., Thornhill, A., Serhal, P., Faed, M.J., Harper, J.C., & Delhanty, J.D. (2006). Comparative genomic hybridization analysis of human oocytes and polar bodies. Human Reproduction, 21, 2319–2328.
  • Fragouli, E., Lenzi, M., Ross, R., Katz-Jaffe, M., Schoolcraft, W.B., & Wells, D. (2008). Comprehensive molecular cytogenetic analysis of the human blastocyst stage. Human Reproduction, 23, 2596–2608.
  • Fragouli, E., Katz-Jaffe, M., Alfarawati, S., Stevens, J., Colls, P., Goodall, N.N., et al. (2010). Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertility and Sterility, 94, 875–887.
  • Fragouli, E., Alfarawati, S., Daphnis, D.D., Goodall, N.N., Mania, A., Griffiths, T., et al. (2011a). Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation. Human Reproduction, 26, 480–490.
  • Fragouli, E., Alfarawati, S., & Goodall, N.N. (2011b). The cytogenetics of polar bodies: insights into female meiosis and the diagnosis of aneuploidy. Molecular Human Reproduction, 17, 286–295.
  • Fragouli, E. & Wells, D. (2011c). Aneuploidy in the human blastocyst. Cytogenetics and Genome Research, 133, 149–59.
  • Fragouli, E., Alfarawati, S., Spath, K., Jaroudi, S., Enciso, M., & Wells D. (2013). The origin and impact of embryonic aneuploidy. Human Genetics, Published Online 26 April (Epub ahead of Print).
  • Gutiérrez-Mateo, C., Benet, J., Wells, D., Colls, P., Bermúdez, M.G., Sánchez-García, J.F., et al. (2004). Aneuploidy study of human oocytes first polar body comparative genomic hybridization and metaphase II fluorescence in situ hybridization analysis. Human Reproduction, 19, 2859–2868.
  • Harper, J.C., Coonen, E., Handyside, A.H., Winston, R.M., Hopman, A.H., & Delhanty, J.D. (1995). Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenatal Diagnosis, 15, 41–49.
  • Iwarsson, E., Malmgren, H., Inzunza, J., Ahrlund-Richter, L., Sjöblom, P., Rosenlund, B., et al. (2000). Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers. Prenatal Diagnosis, 20, 1038–1047.
  • Johnson, D.S., Cinnioglu, C., Ross, R., Filby, A., Gemelos, G., Hill, M., et al. (2010). Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass. Molecular Human Reproduction, 16, 944–949.
  • Katz-Jaffe, M.G., Trounson, A.O., & Cram, D.S. (2004). Mitotic errors in chromosome 21 of human preimplantation embryos are associated with non-viability. Molecular Human Reproduction, 10, 143–147.
  • Magli, M.C., Jones, G.M., Gras, L., Gianaroli, L., Korman, I., & Trounson, A.O. (2000). Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Human Reproduction, 15, 1781–1786.
  • Mantzouratou, A., Mania, A., Fragouli, E., Xanthopoulou, L., Tashkandi, S., Fordham, K., et al. (2007). Variable aneuploidy mechanisms in embryos from couples with poor reproductive histories undergoing preimplantation genetic screening. Human Reproduction, 22, 1844–1853.
  • Mantzouratou, A. & Delhanty, J.D. (2011). Aneuploidy in the human cleavage stage embryo. Cytogenetics and Genome Research, 133, 141–148.
  • Miharu, N. (2005). Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: oligospermia. Cytogenetics and Genome Research, 111, 347–351.
  • Munné, S., Lee, A., Rosenwaks, Z., Grifo, J., & Cohen, J. (1993). Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Human Reproduction, 8, 2185–2191.
  • Munné, S., Sandalinas, M., Escudero, T., Márquez, C., & Cohen, J. (2002). Chromosome mosaicism in cleavage- stage human embryos: evidence of a maternal age effect. Reproductive Biomedicine Online, 4, 223–232.
  • Northrop, L.E., Treff, N.R., Levy, B., & Scott, R.T. Jr. (2010). SNP microarray based 24 chromosome aneuploidy screening demonstrates that cleavage stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. Molecular Human Reproduction, 16, 590–600.
  • Pellestor, F., Anahory, T., & Hamamah, S. (2005). The chromosomal analysis of human oocytes. Human Reproduction Update, 11, 15–32.
  • Santos, M.A., Teklenburg, G., Macklon, N.S., Van Opstal, D., Schuring-Blom, G.H., Krijtenburg, P.-J., et al. (2010). The fate of the mosaic embryo: chromosomal constitution and development of Day 4,5 and 8 human embryos. Human Reproduction, 25, 1916–1926.
  • Simopoulou, M., Harper, J.C., Fragouli, E., Mantzouratou, A., Speyer, B.E., Serhal, P., et al. (2003). Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenatal Diagnosis, 23, 652–662.
  • Templado, C., Vidal, F., & Estop, A. (2011). Aneuploidy in human spermatozoa. Cytogenetics and Genome Research, 133, 91–99.
  • Uroz, L., Rajmil, O., & Templado, C. (2008). Premature separation of sister chromatids in human male meiosis. Human Reproduction, 23, 982–987.
  • Voullaire, L., Slater, H., Williamson, R., & Wilton L. (2000). Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridisation. Human Genetics, 106, 210–217.
  • Voullaire, L., Wilton, L., McBain, J., Callaghan, T., & Williamson, R. (2002). Chromosome abnormalities identified by comparative genomic hybridization in embryos from women with repeated implantation failure. Molecular Human Reproduction, 8, 1035–41.
  • Voullaire, L., Collins, V., Callaghan, T., McBain, J., Williamson, R., & Wilton, L. (2007). High incidence of complex chromosome abnormality in cleavage embryos from patients with repeated implantation failure. Fertility and Sterility, 87, 1053–1058.
  • Wells, D. & Delhanty, J.D. (2000). Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridisation. Molecular Human Reproduction, 11, 1055–1062.

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