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References

These sources were used to develop the Genetics Home Reference chromosome summary on chromosome 21.

Aďt Yahya-Graison E, Aubert J, Dauphinot L, Rivals I, Prieur M, Golfier G, Rossier J, Personnaz L, Creau N, Bléhaut H, Robin S, Delabar JM, Potier MC. Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes. Am J Hum Genet. 2007 Sep;81(3):475-91. Epub 2007 Jul 19. PubMed citation
Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet. 2004 Oct;5(10):725-38. Review. PubMed citation
Antonarakis SE, Lyle R, Deutsch S, Reymond A. Chromosome 21: a small land of fascinating disorders with unknown pathophysiology. Int J Dev Biol. 2002 Jan;46(1):89-96. Review. PubMed citation
Antonarakis SE. Chromosome 21: from sequence to applications. Curr Opin Genet Dev. 2001 Jun;11(3):241-6. Review. PubMed citation
Ensembl Human Map View: Chromosome 21
Gardiner K, Costa AC. The proteins of human chromosome 21. Am J Med Genet C Semin Med Genet. 2006 Aug 15;142C(3):196-205. PubMed citation
Gardiner K, Davisson M. The sequence of human chromosome 21 and implications for research into Down syndrome. Genome Biol. 2000;1(2):REVIEWS0002. Epub 2000 Aug 4. Review. PubMed citation
Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 21. Genet Test. 1997-1998;1(4):301-6. PubMed citation
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML; Chromosome 21 mapping and sequencing consortium. The DNA sequence of human chromosome 21. Nature. 2000 May 18;405(6784):311-9. Erratum in: Nature 2000 Sep 7;407(6800):110. PubMed citation
Licht JD. AML1 and the AML1-ETO fusion protein in the pathogenesis of t(8;21) AML. Oncogene. 2001 Sep 10;20(40):5660-79. Review. PubMed citation
Lubec G, Engidawork E. The brain in Down syndrome (TRISOMY 21). J Neurol. 2002 Oct;249(10):1347-56. Review. PubMed citation
Map Viewer: Genes on Sequence
Sawińska M, Ładoń D. Mechanism, detection and clinical significance of the reciprocal translocation t(12;21)(p12;q22) in the children suffering from acute lymphoblastic leukaemia. Leuk Res. 2004 Jan;28(1):35-42. Review. PubMed citation
UCSC Genome Browser: Statistics
Valero R, Marfany G, Gil-Benso R, Ibáńez MA, López-Pajares I, Prieto F, Rullan G, Sarret E, Gonzŕlez-Duarte R. Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR. J Med Genet. 1999 Sep;36(9):694-9. PubMed citation