caa a22 4500 397575556 CHVBK 20180308164855.0 cr unu---uuuuu 161202e199609 xx s 000 0 eng 10.1093/hmg/5.Supplement_1.1411 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.Supplement_1.1411 Down syndrome genetics: unravelling a multifactorial disorder [Elektronische Daten] [Diana Hernandez, Elizabeth M. C. 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. © 1996 Oxford University Press Hernandez Diana Neurogenetics Unit, Department of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St. Mary's, Norfolk Place, London W2 1PG, UK aut Fisher Elizabeth M. C. Neurogenetics Unit, Department of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St. Mary's, Norfolk Place, London W2 1PG, UK aut Human Molecular Genetics Oxford University Press 5/Supplement_1(1996-09), 1411-1416 0964-6906 5:Supplement_1<1411 1996 5 hmg https://doi.org/10.1093/hmg/5.Supplement_1.1411 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.Supplement_1.1411 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hernandez Diana Neurogenetics Unit, Department of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St. Mary's, Norfolk Place, London W2 1PG, UK aut NATIONALLICENCE 700 1- Fisher Elizabeth M. C. Neurogenetics Unit, Department of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St. Mary's, Norfolk Place, London W2 1PG, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/Supplement_1(1996-09), 1411-1416 0964-6906 5:Supplement_1<1411 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford