{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T06:40:08Z","timestamp":1777531208628,"version":"3.51.4"},"reference-count":55,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2010\/52710-3"],"award-info":[{"award-number":["2010\/52710-3"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2015\/50022-6"],"award-info":[{"award-number":["2015\/50022-6"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2010\/52710-3"],"award-info":[{"award-number":["2010\/52710-3"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2015\/50022-6"],"award-info":[{"award-number":["2015\/50022-6"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Williams-Beuren syndrome (WBS) is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms, and variable abnormalities in different systems.<jats:italic>Objectives<\/jats:italic>. To report the clinical findings of 55 Brazilian patients confirmed by multiplex ligation-dependent probe amplification (MLPA).<jats:italic>Methods<\/jats:italic>. Patients were followed up for 4 years at the Genetics Unit of the Instituto da Crian\u00e7a of the Hospital das Cl\u00ednicas, FMUSP, Brazil. A kit specific for WBS was used to detect the 7q11.23 microdeletion.<jats:italic>Results<\/jats:italic>. Two patients with negative FISH results had positive MLPA results for WBS. The characteristics of the patients with the deletion were as follows: typical WBS facies (98.2%), neuropsychomotor delay (98.2%), hypersocial behavior (94.5%), hyperacusis (94.5%), and congenital heart disease (81.8%).<jats:italic>Conclusions<\/jats:italic>. MLPA was effective in detecting the microdeletion in the 7q11.23 region to confirm the diagnosis of WBS. MLPA was also able to confirm the diagnosis of WBS in two patients with typical clinical characteristics but negative FISH results. Thus, MLPA is a promising method in the diagnostic investigation of WBS. WBS is a multisystemic disorder and therefore requires multidisciplinary care and specific follow-up to prevent complications.<\/jats:p>","DOI":"10.1155\/2015\/903175","type":"journal-article","created":{"date-parts":[[2015,5,18]],"date-time":"2015-05-18T23:27:54Z","timestamp":1431991674000},"page":"1-6","source":"Crossref","is-referenced-by-count":8,"title":["Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA"],"prefix":"10.1155","volume":"2015","author":[{"given":"Rachel Sayuri","family":"Honjo","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit, Instituto da Crian\u00e7a, Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de S\u00e3o Paulo, 05403-000 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta Lelis","family":"Dutra","sequence":"additional","affiliation":[{"name":"Department of Pathology, Laborat\u00f3rio de Citogen\u00f4mica, LIM 03, Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de S\u00e3o Paulo, 05403-000 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika Arai","family":"Furusawa","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Instituto da Crian\u00e7a, Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de S\u00e3o Paulo, 05403-000 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelin Aline","family":"Zanardo","sequence":"additional","affiliation":[{"name":"Department of Pathology, Laborat\u00f3rio de Citogen\u00f4mica, LIM 03, Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de S\u00e3o Paulo, 05403-000 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larissa Sampaio de Athayde","family":"Costa","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Instituto da Crian\u00e7a, Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de S\u00e3o Paulo, 05403-000 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie Domenici","family":"Kulikowski","sequence":"additional","affiliation":[{"name":"Department of Pathology, Laborat\u00f3rio de Citogen\u00f4mica, LIM 03, Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de S\u00e3o Paulo, 05403-000 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debora Romeo","family":"Bertola","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Instituto da Crian\u00e7a, Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de S\u00e3o Paulo, 05403-000 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chong Ae","family":"Kim","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Instituto da Crian\u00e7a, Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de S\u00e3o Paulo, 05403-000 S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(75)80356-8"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(200022)97:2x003C;164::aid-ajmg8x0003e;3.0.co;2-f"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1906"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700406"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.5.389"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1947"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1162\/089892900561959"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19970919)74:5x003C;521::aid-ajmg13x0003e;3.0.co;2-e"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1080\/01688639108401040"},{"issue":"3","key":"10","first-page":"263","volume":"124","year":"2004","journal-title":"American Journal of Medical Genetics Part A"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530406"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-008-8401-y"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1086\/376565"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19980616)78:1x003C;82::aid-ajmg17x0003e;3.0.co;2-k"},{"key":"15","year":"2011"},{"issue":"4","key":"16","first-page":"781","volume":"59","year":"1996","journal-title":"The American Journal of Human Genetics"},{"key":"17","first-page":"S69","volume":"42","year":"2006","journal-title":"Revista de Neurologia"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1038\/ng0993-11"},{"issue":"3","key":"19","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/j.1399-0004.1980.tb00866.x","volume":"18","year":"1980","journal-title":"Clinical Genetics"},{"key":"20","volume-title":"Williams syndrome","year":"1993"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010201)98:460;324::aid-ajmg110362;3.0.co;2-5"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460634"},{"issue":"5","key":"23","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<491::AID-AJMG10>3.0.CO;2-J","volume":"80","year":"1998","journal-title":"American Journal of Medical Genetics"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470406"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1038\/ng753"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-1325-9"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30258"},{"issue":"4","key":"28","first-page":"958","volume":"59","year":"1996","journal-title":"The American Journal of Human Genetics"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.3343\/kjlm.2009.29.1.71"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"31","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(96)70042-2"},{"key":"32","doi-asserted-by":"publisher","DOI":"10.1016\/s0379-0738(99)00120-6"},{"key":"33","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(05)80696-1"},{"key":"34","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/14.11.1458"},{"issue":"3","key":"35","first-page":"234","volume":"127","year":"2004","journal-title":"American Journal of Medical Genetics Part A"},{"key":"36","doi-asserted-by":"publisher","DOI":"10.4103\/0971-9784.58834"},{"key":"37","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2011.10.016"},{"key":"38","doi-asserted-by":"publisher","DOI":"10.4103\/0971-9784.69065"},{"issue":"5","key":"39","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1542\/peds.107.5.1192","volume":"107","year":"2001","journal-title":"Pediatrics"},{"key":"40","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30139"},{"key":"41","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31210"},{"key":"42","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30261"},{"key":"43","doi-asserted-by":"publisher","DOI":"10.1016\/s0161-6420(88)32959-3"},{"key":"44","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33819"},{"key":"45","doi-asserted-by":"publisher","DOI":"10.1086\/501073"},{"key":"46","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp522"},{"key":"47","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19960503)63:1x003C;301::aid-ajmg49x0003e;3.0.co;2-p"},{"key":"48","doi-asserted-by":"publisher","DOI":"10.1056\/nejmra0903074"},{"key":"49","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2003.34703.x"},{"key":"50","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30265"},{"key":"51","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2007.0007"},{"key":"52","doi-asserted-by":"publisher","DOI":"10.1369\/0022155412440001"},{"key":"53","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.03.007"},{"issue":"3","key":"54","first-page":"163","volume":"36","year":"2014","journal-title":"The Malaysian Journal of Pathology"},{"key":"55","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.06.009"}],"updated-by":[{"DOI":"10.1155\/2015\/568047","type":"corrigendum","label":"Corrigendum","source":"publisher","updated":{"date-parts":[[2015,10,8]],"date-time":"2015-10-08T00:00:00Z","timestamp":1444262400000}}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/903175.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/903175.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/903175.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,9]],"date-time":"2024-06-09T02:48:34Z","timestamp":1717901314000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/bmri\/2015\/903175\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":55,"alternative-id":["903175","903175"],"URL":"https:\/\/doi.org\/10.1155\/2015\/903175","relation":{"corrigendum":[{"id-type":"doi","id":"10.1155\/2015\/568047","asserted-by":"object"}]},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"value":"2314-6133","type":"print"},{"value":"2314-6141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}