{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T13:29:52Z","timestamp":1773235792653,"version":"3.50.1"},"reference-count":52,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,4,13]],"date-time":"2010-04-13T00:00:00Z","timestamp":1271116800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying disease\u2010causing genes. Here, we describe the breakpoint mapping of a de novo balanced translocation t(7;12)(q11.22;q14.2) in a patient presenting with a failure to thrive associated with moderate mental retardation, facial anomalies, and chronic constipation. The localization of the breakpoints and the co\u2010occurrence of Williams\u2013Beuren syndrome and 12q14 microdeletion syndrome phenotypes suggested that the expression of some of the dosage\u2010sensitive genes of these two segmental aneuploidies were modified in cells of the proposita. However, we were unable to identify chromosomes 7 and\/or 12\u2010mapping genes that showed disturbed expression in the lymphoblastoids of the proposita. This case showed that position\u2010effect might operate in some tissues, but not in others. It also illustrates the overlap of phenotypes presented by patients with the recently described 12q14 structural rearrangements. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33365","type":"journal-article","created":{"date-parts":[[2010,4,13]],"date-time":"2010-04-13T20:36:02Z","timestamp":1271190962000},"page":"1285-1294","source":"Crossref","is-referenced-by-count":2,"title":["A t(7;12) balanced translocation with breakpoints overlapping those of the Williams\u2013Beuren and 12q14 microdeletion syndromes"],"prefix":"10.1002","volume":"152A","author":[{"given":"Stefania","family":"Gimelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline","family":"Chrast","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anwar","family":"Baban","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte N.","family":"Henrichsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margherita","family":"Lerone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orsetta","family":"Zuffardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Gimelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Reymond","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,4,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000117850.04443.C9"},{"key":"e_1_2_6_3_1","first-page":"4793","article-title":"The expression of a truncated HMGI\u2010C gene induces gigantism associated with lipomatosis","volume":"59","author":"Battista S","year":"1999","journal-title":"Cancer Res"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/376565"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.03.001"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.6.617"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30400"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32652"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5660607"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.214802"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000057012"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.044537"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.162241099"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0993-11"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.108"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000039"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1947"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)00826-7"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.526"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024141"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8417-1-4"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2009.65"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1453"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp011"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.345"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.01.011"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng954"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/bies.10402"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034009"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570103"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.10.1611"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1086\/426833"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.112212199"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1086\/427565"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0404150101"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.27"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.047860"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0710-x"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1086\/506371"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.68"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn148"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1080\/1464727012000199252"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2844"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2007.08.009"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.070052"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02365.x"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1116142"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2002-3-7-research0034"},{"key":"e_1_2_6_50_1","first-page":"995","article-title":"De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints","volume":"49","author":"Warburton D","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2121"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.121"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1038\/376771a0"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33365","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33365","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:40:28Z","timestamp":1697636428000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33365"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4,13]]},"references-count":52,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,5]]}},"alternative-id":["10.1002\/ajmg.a.33365"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33365","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,4,13]]}}}