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Chromosome 22
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References
These sources were used to develop the Genetics Home Reference
chromosome summary
on chromosome 22.
Cusmano-Ozog K, Manning MA, Hoyme HE. 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):393-8. Review.
PubMed citation
Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al. The DNA sequence of human chromosome 22. Nature. 1999 Dec 2;402(6761):489-95. Erratum in: Nature 2000 Apr 20;404(6780):904.
PubMed citation
Ensembl Human Map View: Chromosome
22
Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 22. Genet Test. 1998;2(1):89-97.
PubMed citation
Greco A, Fusetti L, Villa R, Sozzi G, Minoletti F, Mauri P, Pierotti MA. Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans. Oncogene. 1998 Sep 10;17(10):1313-9.
PubMed citation
Jeffries AR, Curran S, Elmslie F, Sharma A, Wenger S, Hummel M, Powell J. Molecular and phenotypic characterization of ring chromosome 22. Am J Med Genet A. 2005 Aug 30;137(2):139-47.
PubMed citation
Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. Eur J Hum Genet. 2005 Sep;13(9):1019-24.
PubMed citation
Kurahashi H, Shaikh TH, Hu P, Roe BA, Emanuel BS, Budarf ML. Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum Mol Genet. 2000 Jul 1;9(11):1665-70.
PubMed citation
Kurzrock R, Kantarjian HM, Druker BJ, Talpaz M. Philadelphia chromosome-positive leukemias: from basic mechanisms to molecular therapeutics. Ann Intern Med. 2003 May 20;138(10):819-30. Review.
PubMed citation
Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE. Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics. 2004 Aug;114(2):451-7.
PubMed citation
Map Viewer: Genes on
Sequence
Maynard TM, Haskell GT, Lieberman JA, LaMantia AS. 22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):407-19. Review.
PubMed citation
McDermid HE, Morrow BE. Genomic disorders on 22q11. Am J Hum Genet. 2002 May;70(5):1077-88. Epub 2002 Mar 29. Review.
PubMed citation
McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet. 1995 Oct 23;59(1):103-13.
PubMed citation
McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns. 1999;10(1):11-24.
PubMed citation
McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med. 2001 Jan-Feb;3(1):23-9.
PubMed citation
Naeem R, Lux ML, Huang SF, Naber SP, Corson JM, Fletcher JA. Ring chromosomes in dermatofibrosarcoma protuberans are composed of interspersed sequences from chromosomes 17 and 22. Am J Pathol. 1995 Dec;147(6):1553-8.
PubMed citation
Ohno T, Rao VN, Reddy ES. EWS/Fli-1 chimeric protein is a transcriptional activator. Cancer Res. 1993 Dec 15;53(24):5859-63.
PubMed citation
Pai, G Shashidhar; Lewandowski, Raymond C; Borgaonkar, Digamber S; Handbook of chromosomal syndromes; Hoboken, N.J. : Wiley-Liss, c2003. p320-332.
Pedeutour F, Simon MP, Minoletti F, Sozzi G, Pierotti MA, Hecht F, Turc-Carel C. Ring 22 chromosomes in dermatofibrosarcoma protuberans are low-level amplifiers of chromosome 17 and 22 sequences. Cancer Res. 1995 Jun 1;55(11):2400-3.
PubMed citation
Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP. 22q13 deletion syndrome. Am J Med Genet. 2001 Jun 15;101(2):91-9.
PubMed citation
Portnoï MF. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet. 2009 Mar-Jun;52(2-3):88-93. doi: 10.1016/j.ejmg.2009.02.008. Epub 2009 Feb 28. Review.
PubMed citation
Rinn JL, Euskirchen G, Bertone P, Martone R, Luscombe NM, Hartman S, Harrison PM, Nelson FK, Miller P, Gerstein M, Weissman S, Snyder M. The transcriptional activity of human Chromosome 22. Genes Dev. 2003 Feb 15;17(4):529-40.
PubMed citation
Sankar S, Lessnick SL. Promiscuous partnerships in Ewing's sarcoma. Cancer Genet. 2011 Jul;204(7):351-65. doi: 10.1016/j.cancergen.2011.07.008. Review.
PubMed citation
Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet. 1999 Dec;65(6):1595-607.
PubMed citation
Shimizu A, O'Brien KP, Sjöblom T, Pietras K, Buchdunger E, Collins VP, Heldin CH, Dumanski JP, Ostman A. The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB. Cancer Res. 1999 Aug 1;59(15):3719-23.
PubMed citation
Simon MP, Navarro M, Roux D, Pouysségur J. Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in Dermatofibrosarcoma protuberans (DP). Oncogene. 2001 May 24;20(23):2965-75.
PubMed citation
Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM, Terrier-Lacombe MJ, Mandahl N, Craver RD, Blin N, Sozzi G, Turc-Carel C, O'Brien KP, Kedra D, Fransson I, Guilbaud C, Dumanski JP. Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet. 1997 Jan;15(1):95-8.
PubMed citation
Sirvent N, Maire G, Pedeutour F. Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. Genes Chromosomes Cancer. 2003 May;37(1):1-19. Review.
PubMed citation
UCSC Genome Browser:
Statistics
Yamagishi H, Srivastava D. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. Trends Mol Med. 2003 Sep;9(9):383-9. Review.
PubMed citation
Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE. Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet. 2005 May;76(5):865-76. Epub 2005 Mar 30.
PubMed citation
Reviewed: May 2012
Published: May 20, 2013
Indicates a page outside Genetics Home Reference.