Human trisomy is a leading cause of fetal wastage, perinatal and infant mortality, congenital malformation and mental retardation.
Keywords: trisomy; meiosis; maternal age; syndromes
Trisomy
Michel Vekemans, Hôpital Necker–Enfants Malades, Paris, France
Published online: January 2006
DOI: 10.1038/npg.els.0005544
| References | |
| book Blakeslee A (1932) Proceedings of the Sixth International Congress of Genetics, vol. 1, pp. 104–120. 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: 11–17. | |
| Hassold T and Hunt P (2001) To err (meiotically) is human: the genesis of human aneuploidy. Nature Reviews Genetics 2: 280–291. | |
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| 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: 374–376. | |
| 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): 620–626. | |
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| 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: 83–88. | |
| 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: 68–78. | |
| Vekemans M and Trasler T (1986) Liability to cleft palate in trisomy 19 mouse embryos. Journal of Craniofacial Genetics and Developmental Biology 2 (supplement): 235–240. | |
| Further Reading | |
| book De Grouchy J and Turleau C (1984) Clinical Atlas of Human Chromosomes, 2nd edn. New York, NY: John Wiley. | |
| book Dellarco VL, Voyteck PE and Hollaender A (1985) Aneuploidy: Etiology and Mechanisms. New York, NY: Plenum Press. | |
| book Epstein CJ (1986) The Consequences of Chromosome Imbalance – Principles, Mechanisms, and Models. Cambridge, UK: Cambridge University Press. | |
| book Hook EB (1992) "Chromosome abnormalities: prevalence, risks and recurrence". In: Brock DJH, Rodeck CH and Ferguson-Smith MA (eds.) Prenatal Diagnosis and Screening, pp. 351–392. Edinburg/London, UK: Churchill Livingstone. | |
| book 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: 241–269. | |
| book 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. 165–186. New York, NY: Alan R Liss. | |
