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Mouse Models of down Syndrome

  • Chapter
Mouse Models in the Study of Genetic Neurological Disorders

Part of the book series: Advances in Neurochemistry ((ANCH,volume 9))

Abstract

Down syndrome (DS) is a complex condition caused by a triplicate state (trisomy) of all or part of human chromosome 21 (HSA21). Trisomy 21 (Ts21) is the most frequently observed aneuploidy among liveborn infants (Hook, 1981; Hassold and Jacobs, 1984; Hayes and Batshaw, 1993) and accounts for 90-95% of trisomies in newborns (Sankaranarayanan, 1979). Molecular genetics studies have traced the origin of the extra chromosome in Ts21 as maternal in 95% of the cases, with nondisjunction in meiosis I the error about 80% of the time (Abruzzo and Hassold, 1995). The only predisposing factor that has been established for the occurrence of trisomies, particularly Ts21, is advanced maternal age, a phenomenon that still awaits a mechanistic explanation (Gaulden, 1992; Abruzzo and Hassold, 1995; Lamb et al., 1996). It should be noted, however that, in absolute terms, the importance of the maternal age effect in increasing the overall incidence of DS is offset by the higher birth rate in the younger female population, which explains why about 80% of all infants with DS are born to mothers younger than 35 years (Hook et al., 1983).

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  1. The Jackson Laboratory, Bar Harbor, Maine, 04609

    Muriel T. Davisson & Alberto C. S. Costa

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    Brian Popko

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Davisson, M.T., Costa, A.C.S. (1999). Mouse Models of down Syndrome. In: Popko, B. (eds) Mouse Models in the Study of Genetic Neurological Disorders. Advances in Neurochemistry, vol 9. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4887-4_13

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