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  1. Michel Vekemans

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0005544



How to Cite

Vekemans, M. 2006. Trisomy. eLS. .

Author Information

  1. Hôpital Necker–Enfants Malades, Paris, France

Publication History

  1. Published Online: 27 JAN 2006


  1. References
  2. Further Reading
  • Blakeslee A (1932) Proceedings of the Sixth International Congress of Genetics, vol. 1, pp. 104120. Philadelphia, PA: Jones.
  • Hassold T and Chiu D (1985) Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy. Human Genetics 70: 1117.
  • Hassold T and Hunt P (2001) To err (meiotically) is human: the genesis of human aneuploidy. Nature Reviews Genetics 2: 280291.
  • Hassold TJ and Jacobs PA (1984) Trisomy in man. Annual Review of Genetics 18: 6997.
  • Korenberg JR, Chen XN, Schipper R, et al. (1994) Down syndrome phenotypes: the consequences of chromosomal imbalance. Proceedings of the National Academy of Sciences of the United States of America 91: 49975001.
  • Lamb NE, Freeman SB, Savage-Austin A, et al. (1996) Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nature Genetics 14: 374376.
  • Mahmood R, Brierley CH, Faed MJ, Mills JA and Delhanty JD (2000) Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception. Human Genetics 106(6): 620626.
  • Penrose L (1933) The relative effects of paternal and maternal age in mongolism. Journal of Genetics 27: 219224.
  • Reeves RH, Baxter LL and Richtsmeier JT (2001) Too much of a good thing: mechanisms of gene action in Down syndrome. Trends in Genetics 17: 8388.
  • Risch N, Stein Z, Kline J and Warburton D (1986) The relationship between maternal age and chromosome size in autosomal trisomy. American Journal of Human Genetics 39: 6878.
  • Vekemans M and Trasler T (1986) Liability to cleft palate in trisomy 19 mouse embryos. Journal of Craniofacial Genetics and Developmental Biology 2 (supplement): 235240.

Further Reading

  1. References
  2. Further Reading
  • De Grouchy J and Turleau C (1984) Clinical Atlas of Human Chromosomes, 2nd edn. New York, NY: John Wiley.
  • Dellarco VL, Voyteck PE and Hollaender A (1985) Aneuploidy: Etiology and Mechanisms. New York, NY: Plenum Press.
  • Epstein CJ (1986) The Consequences of Chromosome Imbalance – Principles, Mechanisms, and Models. Cambridge, UK: Cambridge University Press.
  • Hook EB (1992) Chromosome abnormalities: prevalence, risks and recurrence. In: Brock DJH, Rodeck CH and Ferguson-Smith MA (eds.) Prenatal Diagnosis and Screening, pp. 351392. Edinburg/London, UK: Churchill Livingstone.
  • Schinzel A (2001) Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin: Walter de Gruyter.
  • Shapiro BL (1983) Down syndrome – a disruption of homeostasis. American Journal of Medical Genetics 14: 241269.
  • Warburton D (1989) The effect of maternal age on the frequency of trisomy: change in meiosis or in utero selection? In: Terry J. Hassold and Charles J. Epstein (eds.) Molecular and Cytogenetics Studies of Non-Disjunction, pp. 165186. New York, NY: Alan R Liss.