{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:07:36Z","timestamp":1761844056274},"reference-count":55,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2011,3,15]],"date-time":"2011-03-15T00:00:00Z","timestamp":1300147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2011,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The most common microdeletion in humans involves the 22q11 region. Congenital anomalies associated with 22q11 loss include cardiac and facial defects. Less frequent is the co\u2010presentation of malignant rhabdoid tumors that are highly aggressive childhood malignancies typically found in renal or extra\u2010renal soft tissues and central nervous system. A newborn patient presented with multiple congenital anomalies consistent with 22q11 deletion syndrome including cleft lip and palate, ear tags and ventricular septal defects co\u2010presenting with an axillary rhabdoid tumor. Comparative genomic hybridization revealed a 2.8 Mb germline deletion in the 22q11.2 region containing genes required for normal fetal development and the <jats:italic>SMARCB1<\/jats:italic> tumor suppressor gene. Analysis of tumor DNA revealed a somatic deletion of exon 7 in the second allele of <jats:italic>SMARCB1<\/jats:italic>. Expression of SMARCB1 was absent, while tumor markers including MYC, GFAP, and CLAUDIN\u20106 were upregulated. The presence of tandem oriented <jats:italic>BCRL<\/jats:italic> modules located within interspersed low copy repeat elements throughout the 22q11 distal region may predispose this area for microdeletions through nonalleleic homologous recombination. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20862","type":"journal-article","created":{"date-parts":[[2011,3,15]],"date-time":"2011-03-15T15:58:33Z","timestamp":1300204713000},"page":"379-388","source":"Crossref","is-referenced-by-count":22,"title":["Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the <i>SMARCB1<\/i> tumor suppressor"],"prefix":"10.1002","volume":"50","author":[{"given":"George","family":"Toth","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia B.","family":"Zraly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tricia L.","family":"Thomson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shawn","family":"Lapetino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan","family":"Muraskas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiwang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew K.","family":"Dingwall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,3,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00063.2006"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.4"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-230X(10)07006-5"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318177015c"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.014"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.3171\/foc.2006.20.1.12"},{"key":"e_1_2_6_8_1","first-page":"74","article-title":"Germ\u2010line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors","volume":"59","author":"Biegel JA","year":"1999","journal-title":"Cancer Res"},{"key":"e_1_2_6_9_1","first-page":"3461","article-title":"Alterations of the hSNF5\/INI1 gene in central nervous system atypical teratoid\/rhabdoid tumors and renal and extrarenal rhabdoid tumors","volume":"8","author":"Biegel JA","year":"2002","journal-title":"Clin Cancer Res"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2008.00255.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01060.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10832"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/302343"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/302689"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1712408"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-48"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.2010.66"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.79.4.348"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/513207"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0509014102"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0386-3"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.07.035"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-07-1661"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-10-348"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e3181ce107b"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61601-8"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.4306\/pi.2010.7.1.72"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33119"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/3-540-32952-8_6"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/35065105"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.23020"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00247-1"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31882"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-05-3427"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11060-009-0071-6"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0751-5"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-003-0909-8"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.4161\/cbt.8.5.8019"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01052653"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1996.85.1.0056"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/92.8.648"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.16.2421"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)90734-K"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1086\/302639"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.489"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00003"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5986507"},{"key":"e_1_2_6_48_1","first-page":"56","article-title":"A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo\u2010cardio\u2010facial syndrome","volume":"15","author":"Shprintzen RJ","year":"1978","journal-title":"Cleft Palate J"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(02)02592-1"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20080297"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2004.00.8110"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20195"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02018"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2010.090816"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2010.04.011"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpregu.00862.2007"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.20862","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.20862","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T06:39:52Z","timestamp":1697438392000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.20862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,3,15]]},"references-count":55,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,6]]}},"alternative-id":["10.1002\/gcc.20862"],"URL":"https:\/\/doi.org\/10.1002\/gcc.20862","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,3,15]]}}}