Human Molecular Genetics, Vol 5, 1411-1416, Copyright © 1996 by Oxford University Press
D Hernandez and EM Fisher
Down syndrome is a common disorder affecting many tissues both during
development and later on in adult life; the principle feature of all cases
is a specific form of mental retardation, which is combined with a range of
variable traits. Down syndrome is an aneuploidy syndrome that is caused by
trisomy for human chromosome 21. While the phenotype is most likely due to
a subtle increase in gene dosage of only a small minority of the estimated
500-800 genes that are present on this chromosome, the molecular genetics
of Down syndrome remains speculative. However, recent advances on a number
of fronts, including chromosome studies, gene identification and mouse
modelling, are giving us the tools to dissect this multifactorial gene
dosage disorder.
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Down syndrome genetics: unravelling a multifactorial disorder
Department of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St. Mary's, London, UK.
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