McDermid HE, Morrow BE: Genomic disorders on 22q11. Am J Hum Genet. 2002, 70 (5): 1077-1088. 10.1086/340363.
Article
CAS
PubMed
PubMed Central
Google Scholar
DiGeorge A: A new concept of the cellular basis of immunity. J Pediatr. 1965, 67: 907-
Article
Google Scholar
Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D: A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. 1978, 15 (1): 56-62.
CAS
PubMed
Google Scholar
Zackai EH, Emanuel BS: Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet. 1980, 7 (4): 507-521. 10.1002/ajmg.1320070412.
Article
CAS
PubMed
Google Scholar
Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA: The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum Genet. 1981, 57 (2): 148-158. 10.1007/BF00282012.
Article
CAS
PubMed
Google Scholar
Burn J, Goodship J: Developmental genetics of the heart. Curr Opin Genet Dev. 1996, 6 (3): 322-325. 10.1016/S0959-437X(96)80009-8.
Article
CAS
PubMed
Google Scholar
Chow EW, Bassett AS, Weksberg R: Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics. Am J Med Genet. 1994, 54 (2): 107-112. 10.1002/ajmg.1320540205.
Article
CAS
PubMed
PubMed Central
Google Scholar
Papolos DF, Faedda GL, Veit S, Goldberg R, Morrow B, Kucherlapati R, Shprintzen RJ: Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?. Am J Psychiatry. 1996, 153 (12): 1541-1547.
Article
CAS
PubMed
Google Scholar
Murphy KC, Jones LA, Owen MJ: High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry. 1999, 56 (10): 940-945. 10.1001/archpsyc.56.10.940.
Article
CAS
PubMed
Google Scholar
Shprintzen RJ: Velo-cardio-facial syndrome: a distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev. 2001, 6: 142-147. 10.1002/1098-2779(2000)6:2<142::AID-MRDD9>3.0.CO;2-H.
Article
Google Scholar
Murphy KC, Owen MJ: Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. Br J Psychiatry. 2001, 179: 397-402. 10.1192/bjp.179.5.397.
Article
CAS
PubMed
Google Scholar
Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS: Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet. 2000, 9 (4): 489-501. 10.1093/hmg/9.4.489.
Article
CAS
PubMed
Google Scholar
Cheung VG, Nowak N, Jang W, Kirsch IR, Zhao S, Chen XN, Furey TS, Kim UJ, Kuo WL, Olivier M, Conroy J, Kasprzyk A, Massa H, Yonescu R, Sait S, Thoreen C, Snijders A, Lemyre E, Bailey JA, Bruzel A, Burrill WD, Clegg SM, Collins S, Dhami P, Friedman C, Han CS, Herrick S, Lee J, Ligon AH, Lowry S, Morley M, Narasimhan S, Osoegawa K, Peng Z, Plajzer-Frick I, Quade BJ, Scott D, Sirotkin K, Thorpe AA, Gray JW, Hudson J, Pinkel D, Ried T, Rowen L, Shen-Ong GL, Strausberg RL, Birney E, Callen DF, Cheng JF, Cox DR, Doggett NA, Carter NP, Eichler EE, Haussler D, Korenberg JR, Morton CC, Albertson D, Schuler G, de Jong PJ, Trask BJ: Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature. 2001, 409 (6822): 953-958. 10.1038/35057192.
Article
CAS
PubMed
Google Scholar
Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE: Recent segmental duplications in the human genome. Science. 2002, 297 (5583): 1003-1007. 10.1126/science.1072047.
Article
CAS
PubMed
Google Scholar
Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS: Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet. 1993, 30 (10): 813-817.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kelly D, Goldberg R, Wilson D, Lindsay E, Carey A, Goodship J, Burn J, Cross I, Shprintzen RJ, Scambler PJ: Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet. 1993, 45 (3): 308-312. 10.1002/ajmg.1320450306.
Article
CAS
PubMed
Google Scholar
Halford S, Lindsay E, Nayudu M, Carey AH, Baldini A, Scambler PJ: Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11. Hum Mol Genet. 1993, 2 (2): 191-196.
Article
CAS
PubMed
Google Scholar
Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R, Kucherlapati R: Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet. 1995, 56 (6): 1391-1403.
CAS
PubMed
PubMed Central
Google Scholar
Collins JE, Mungall AJ, Badcock KL, Fay JM, Dunham I: The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11. Genome Res. 1997, 7 (5): 522-531.
CAS
PubMed
Google Scholar
Edelmann L, Pandita RK, Morrow BE: Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet. 1999, 64 (4): 1076-1086. 10.1086/302343.
Article
CAS
PubMed
PubMed Central
Google Scholar
Stankiewicz P, Lupski JR: Genome architecture, rearrangements and genomic disorders. Trends Genet. 2002, 18 (2): 74-82. 10.1016/S0168-9525(02)02592-1.
Article
CAS
PubMed
Google Scholar
Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE: A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet. 1999, 8 (7): 1157-1167. 10.1093/hmg/8.7.1157.
Article
CAS
PubMed
Google Scholar
Maynard TM, Haskell GT, Lieberman JA, LaMantia AS: 22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome. Int J Dev Neurosci. 2002, 20 (3-5): 407-419. 10.1016/S0736-5748(02)00050-3.
Article
CAS
PubMed
Google Scholar
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann N, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowski J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ: Initial sequencing and analysis of the human genome. Nature. 2001, 409 (6822): 860-921. 10.1038/35057062.
Article
CAS
PubMed
Google Scholar
Batzer MA, Deininger PL: Alu repeats and human genomic diversity. Nat Rev Genet. 2002, 3 (5): 370-379. 10.1038/nrg798.
Article
CAS
PubMed
Google Scholar
Kolomietz E, Meyn MS, Pandita A, Squire JA: The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes Chromosomes Cancer. 2002, 35 (2): 97-112. 10.1002/gcc.10111.
Article
CAS
PubMed
Google Scholar
Human UniSTS database [http://www.ncbi.nlm.nih.gov/genome/sts/].
Ensembl Human Genome Database [http://www.ensembl.org].
Smit AF: RepeatMasker [http://www.repeatmasker.org/].
NCBI ftp website [ftp://ftp.ncbi.nih.gov/].
Integrated Genome Browser [www.affymetrix.com].
Babcock M, Pavlicek A, Spiteri E, Kashork CD, Ioshikhes I, Shaffer LG, Jurka J, Morrow BE: Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Res. 2003, 13 (12): 2519-2532. 10.1101/gr.1549503.
Article
CAS
PubMed
PubMed Central
Google Scholar
UCSC genome browser [http://genome.ucsc.edu/].
Affymetrix DAS server [http://netaffxdas.affymetrix.com/quickload_data/].
Wieser R, Fritz B, Ullmann R, Muller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H: Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney. Hum Mutat. 2005, 26 (2): 78-83. 10.1002/humu.20195.
Article
CAS
PubMed
Google Scholar
Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE: Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet. 1997, 61 (3): 620-629.
Article
CAS
PubMed
PubMed Central
Google Scholar
Shaikh TH, Kurahashi H, Emanuel BS: Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Genet Med. 2001, 3 (1): 6-13.
Article
CAS
PubMed
Google Scholar
Jurka J, Pethiyagoda C: Simple repetitive DNA sequences from primates: compilation and analysis. J Mol Evol. 1995, 40 (2): 120-126. 10.1007/BF00167107.
Article
CAS
PubMed
Google Scholar
Deininger PL, Batzer MA: Alu repeats and human disease. Mol Genet Metab. 1999, 67 (3): 183-193. 10.1006/mgme.1999.2864.
Article
CAS
PubMed
Google Scholar
Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR: A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet. 1996, 12 (3): 288-297. 10.1038/ng0396-288.
Article
CAS
PubMed
Google Scholar
Scambler PJ: The 22q11 deletion syndromes. Hum Mol Genet. 2000, 9 (16): 2421-2426. 10.1093/hmg/9.16.2421.
Article
CAS
PubMed
Google Scholar
Augusseau S, Jouk S, Jalbert P, Prieur M: DiGeorge syndrome and 22q11 rearrangements. Hum Genet. 1986, 74 (2): 206-10.1007/BF00282098.
Article
CAS
PubMed
Google Scholar
Peoples R, Franke Y, Wang YK, Perez-Jurado L, Paperna T, Cisco M, Francke U: A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23. Am J Hum Genet. 2000, 66 (1): 47-68. 10.1086/302722.
Article
CAS
PubMed
PubMed Central
Google Scholar
Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR: Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet. 1997, 17 (2): 154-163. 10.1038/ng1097-154.
Article
CAS
PubMed
Google Scholar
Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD: Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet. 1999, 65 (2): 370-386. 10.1086/302510.
Article
CAS
PubMed
PubMed Central
Google Scholar