{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:27Z","timestamp":1761717987089},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,3,2]],"date-time":"2006-03-02T00:00:00Z","timestamp":1141257600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2006,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Chromosome 22q11.2 region is highly susceptible to rearrangement, specifically deletions that give rise to a variety of genomic disorders including velocardiofacial or DiGeorge syndrome. Individuals with this 22q11 microdeletion syndrome are at a greatly increased risk to develop schizophrenia.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Genotype analysis was carried out on the DNA from a patient with the 22q11 microdeletion using genetic markers and custom primer sets to define the deletion. Bioinformatic analysis was performed for molecular characterization of the deletion breakpoint sequences in this patient.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>This 22q11 deletion patient was established to have a novel 2.3 Mb deletion with a proximal breakpoint located between genetic markers RH48663 and RH48348 and a distal breakpoint between markers D22S1138 and SHGC-145314. Molecular characterization of the sequences at the breakpoints revealed a 270 bp shared sequence of the breakpoint regions (SSBR) common to both ends that share &gt;90% sequence similarity to each other and also to short interspersed nuclear elements\/Alu elements.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>This Alu sequence like SSBR is commonly in the proximity of all known deletion breakpoints of 22q11 region and also in the low copy repeat regions (LCRs). This sequence may represent a preferred sequence in the breakpoint regions or LCRs for intra-chromosomal homologous recombination mechanisms resulting in common 22q11 deletion.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-7-18","type":"journal-article","created":{"date-parts":[[2006,3,10]],"date-time":"2006-03-10T19:15:40Z","timestamp":1142018140000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions"],"prefix":"10.1186","volume":"7","author":[{"given":"Raihan K","family":"Uddin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria Mok","family":"Siu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao-Shan","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard L","family":"O'Reilly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jay","family":"Rao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiva M","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2006,3,2]]},"reference":[{"issue":"5","key":"126_CR1","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1086\/340363","volume":"70","author":"HE McDermid","year":"2002","unstructured":"McDermid HE, Morrow BE: Genomic disorders on 22q11. Am J Hum Genet. 2002, 70 (5): 1077-1088. 10.1086\/340363.","journal-title":"Am J Hum Genet"},{"key":"126_CR2","doi-asserted-by":"publisher","first-page":"907","DOI":"10.1016\/S0022-3476(65)82145-X","volume":"67","author":"A DiGeorge","year":"1965","unstructured":"DiGeorge A: A new concept of the cellular basis of immunity. J Pediatr. 1965, 67: 907-","journal-title":"J Pediatr"},{"issue":"1","key":"126_CR3","first-page":"56","volume":"15","author":"RJ Shprintzen","year":"1978","unstructured":"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.","journal-title":"Cleft Palate J"},{"issue":"4","key":"126_CR4","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1002\/ajmg.1320070412","volume":"7","author":"EH Zackai","year":"1980","unstructured":"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.","journal-title":"Am J Med Genet"},{"issue":"2","key":"126_CR5","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1007\/BF00282012","volume":"57","author":"A Schinzel","year":"1981","unstructured":"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.","journal-title":"Hum Genet"},{"issue":"3","key":"126_CR6","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1016\/S0959-437X(96)80009-8","volume":"6","author":"J Burn","year":"1996","unstructured":"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.","journal-title":"Curr Opin Genet Dev"},{"issue":"2","key":"126_CR7","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1002\/ajmg.1320540205","volume":"54","author":"EW Chow","year":"1994","unstructured":"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.","journal-title":"Am J Med Genet"},{"issue":"12","key":"126_CR8","doi-asserted-by":"publisher","first-page":"1541","DOI":"10.1176\/ajp.153.12.1541","volume":"153","author":"DF Papolos","year":"1996","unstructured":"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.","journal-title":"Am J Psychiatry"},{"issue":"10","key":"126_CR9","doi-asserted-by":"publisher","first-page":"940","DOI":"10.1001\/archpsyc.56.10.940","volume":"56","author":"KC Murphy","year":"1999","unstructured":"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.","journal-title":"Arch Gen Psychiatry"},{"key":"126_CR10","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1002\/1098-2779(2000)6:2<142::AID-MRDD9>3.0.CO;2-H","volume":"6","author":"RJ Shprintzen","year":"2001","unstructured":"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.","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"126_CR11","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1192\/bjp.179.5.397","volume":"179","author":"KC Murphy","year":"2001","unstructured":"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.","journal-title":"Br J Psychiatry"},{"issue":"4","key":"126_CR12","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1093\/hmg\/9.4.489","volume":"9","author":"TH Shaikh","year":"2000","unstructured":"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.","journal-title":"Hum Mol Genet"},{"issue":"6822","key":"126_CR13","doi-asserted-by":"publisher","first-page":"953","DOI":"10.1038\/35057192","volume":"409","author":"VG Cheung","year":"2001","unstructured":"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.","journal-title":"Nature"},{"issue":"5583","key":"126_CR14","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1126\/science.1072047","volume":"297","author":"JA Bailey","year":"2002","unstructured":"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.","journal-title":"Science"},{"issue":"10","key":"126_CR15","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1136\/jmg.30.10.813","volume":"30","author":"DA Driscoll","year":"1993","unstructured":"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.","journal-title":"J Med Genet"},{"issue":"3","key":"126_CR16","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1002\/ajmg.1320450306","volume":"45","author":"D Kelly","year":"1993","unstructured":"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.","journal-title":"Am J Med Genet"},{"issue":"2","key":"126_CR17","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1093\/hmg\/2.2.191","volume":"2","author":"S Halford","year":"1993","unstructured":"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.","journal-title":"Hum Mol Genet"},{"issue":"6","key":"126_CR18","first-page":"1391","volume":"56","author":"B Morrow","year":"1995","unstructured":"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.","journal-title":"Am J Hum Genet"},{"issue":"5","key":"126_CR19","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1101\/gr.7.5.522","volume":"7","author":"JE Collins","year":"1997","unstructured":"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.","journal-title":"Genome Res"},{"issue":"4","key":"126_CR20","doi-asserted-by":"publisher","first-page":"1076","DOI":"10.1086\/302343","volume":"64","author":"L Edelmann","year":"1999","unstructured":"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.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"126_CR21","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/S0168-9525(02)02592-1","volume":"18","author":"P Stankiewicz","year":"2002","unstructured":"Stankiewicz P, Lupski JR: Genome architecture, rearrangements and genomic disorders. Trends Genet. 2002, 18 (2): 74-82. 10.1016\/S0168-9525(02)02592-1.","journal-title":"Trends Genet"},{"issue":"7","key":"126_CR22","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1093\/hmg\/8.7.1157","volume":"8","author":"L Edelmann","year":"1999","unstructured":"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.","journal-title":"Hum Mol Genet"},{"issue":"3-5","key":"126_CR23","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1016\/S0736-5748(02)00050-3","volume":"20","author":"TM Maynard","year":"2002","unstructured":"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.","journal-title":"Int J Dev Neurosci"},{"issue":"6822","key":"126_CR24","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1038\/35057062","volume":"409","author":"ES Lander","year":"2001","unstructured":"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.","journal-title":"Nature"},{"issue":"5","key":"126_CR25","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1038\/nrg798","volume":"3","author":"MA Batzer","year":"2002","unstructured":"Batzer MA, Deininger PL: Alu repeats and human genomic diversity. Nat Rev Genet. 2002, 3 (5): 370-379. 10.1038\/nrg798.","journal-title":"Nat Rev Genet"},{"issue":"2","key":"126_CR26","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1002\/gcc.10111","volume":"35","author":"E Kolomietz","year":"2002","unstructured":"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.","journal-title":"Genes Chromosomes Cancer"},{"key":"126_CR27","unstructured":"Human UniSTS database [http:\/\/www.ncbi.nlm.nih.gov\/genome\/sts\/]."},{"key":"126_CR28","unstructured":"Ensembl Human Genome Database [http:\/\/www.ensembl.org]."},{"key":"126_CR29","unstructured":"Smit AF: RepeatMasker [http:\/\/www.repeatmasker.org\/]."},{"key":"126_CR30","unstructured":"NCBI ftp website [ftp:\/\/ftp.ncbi.nih.gov\/]."},{"key":"126_CR31","unstructured":"Integrated Genome Browser [www.affymetrix.com]."},{"issue":"12","key":"126_CR32","doi-asserted-by":"publisher","first-page":"2519","DOI":"10.1101\/gr.1549503","volume":"13","author":"M Babcock","year":"2003","unstructured":"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.","journal-title":"Genome Res"},{"key":"126_CR33","unstructured":"UCSC genome browser [http:\/\/genome.ucsc.edu\/]."},{"key":"126_CR34","unstructured":"Affymetrix DAS server [http:\/\/netaffxdas.affymetrix.com\/quickload_data\/]."},{"issue":"2","key":"126_CR35","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1002\/humu.20195","volume":"26","author":"R Wieser","year":"2005","unstructured":"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.","journal-title":"Hum Mutat"},{"issue":"3","key":"126_CR36","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1086\/515508","volume":"61","author":"C Carlson","year":"1997","unstructured":"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.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"126_CR37","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1097\/00125817-200101000-00003","volume":"3","author":"TH Shaikh","year":"2001","unstructured":"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.","journal-title":"Genet Med"},{"issue":"2","key":"126_CR38","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1007\/BF00167107","volume":"40","author":"J Jurka","year":"1995","unstructured":"Jurka J, Pethiyagoda C: Simple repetitive DNA sequences from primates: compilation and analysis. J Mol Evol. 1995, 40 (2): 120-126. 10.1007\/BF00167107.","journal-title":"J Mol Evol"},{"issue":"3","key":"126_CR39","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1006\/mgme.1999.2864","volume":"67","author":"PL Deininger","year":"1999","unstructured":"Deininger PL, Batzer MA: Alu repeats and human disease. Mol Genet Metab. 1999, 67 (3): 183-193. 10.1006\/mgme.1999.2864.","journal-title":"Mol Genet Metab"},{"issue":"3","key":"126_CR40","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1038\/ng0396-288","volume":"12","author":"LT Reiter","year":"1996","unstructured":"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.","journal-title":"Nat Genet"},{"issue":"16","key":"126_CR41","doi-asserted-by":"publisher","first-page":"2421","DOI":"10.1093\/hmg\/9.16.2421","volume":"9","author":"PJ Scambler","year":"2000","unstructured":"Scambler PJ: The 22q11 deletion syndromes. Hum Mol Genet. 2000, 9 (16): 2421-2426. 10.1093\/hmg\/9.16.2421.","journal-title":"Hum Mol Genet"},{"issue":"2","key":"126_CR42","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1007\/BF00282098","volume":"74","author":"S Augusseau","year":"1986","unstructured":"Augusseau S, Jouk S, Jalbert P, Prieur M: DiGeorge syndrome and 22q11 rearrangements. Hum Genet. 1986, 74 (2): 206-10.1007\/BF00282098.","journal-title":"Hum Genet"},{"issue":"1","key":"126_CR43","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1086\/302722","volume":"66","author":"R Peoples","year":"2000","unstructured":"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.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"126_CR44","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1038\/ng1097-154","volume":"17","author":"KS Chen","year":"1997","unstructured":"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.","journal-title":"Nat Genet"},{"issue":"2","key":"126_CR45","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1086\/302510","volume":"65","author":"JM Amos-Landgraf","year":"1999","unstructured":"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.","journal-title":"Am J Hum Genet"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-7-18.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-7-18\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-7-18","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-7-18.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:45:11Z","timestamp":1630457111000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-7-18"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3,2]]},"references-count":45,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["126"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-7-18","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,3,2]]},"assertion":[{"value":"29 July 2005","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 March 2006","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 March 2006","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"18"}}