{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T08:40:32Z","timestamp":1696668032599},"reference-count":48,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,9,30]],"date-time":"2015-09-30T00:00:00Z","timestamp":1443571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Funda\u00e7\u00e3o de Amparo a Pesquisa do Estado de S\u00e3o Paulo","award":["2010\/52710-3","2009\/53105-9"],"award-info":[{"award-number":["2010\/52710-3","2009\/53105-9"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:sec><jats:label \/><jats:p>Williams\u2013Beuren syndrome (WBS) is caused by a hemizygous contiguous gene microdeletion of 1.55\u20131.84\u2009Mb at 7q11.23 region. Approximately, 28 genes have been shown to contribute to classical phenotype of SWB with presence of dysmorphic facial features, supravalvular aortic stenosis (SVAS), intellectual disability, and overfriendliness. With the use of Microarray\u2010based comparative genomic hybridization and other molecular cytogenetic techniques, is possible define with more accuracy partial or atypical deletion and refine the genotype\u2010phenotype correlation. Here, we report on a rare genomic structural rearrangement in a boy with atypical deletion in 7q11.23 and XYY syndrome with characteristic clinical signs, but not sufficient for the diagnosis of WBS. Cytogenetic analysis of G\u2010banding showed a karyotype 47,XYY. Analysis of DNA with the technique of MLPA (Multiplex Ligation\u2010dependent Probe Amplification) using kits a combination of kits (P064, P036, P070, and P029) identified an atypical deletion on 7q11.23. In addition, high resolution SNP Oligonucleotide Microarray Analysis (SNP\u2010array) confirmed the alterations found by MLPA and revealed others pathogenic CNVs, in the chromosomes 7 and X. The present report demonstrates an association not yet described in literature, between Williams\u2013Beuren syndrome and 47,XYY. The identification of atypical deletion in 7q11.23 concomitant to additional pathogenic CNVs in others genomic regions allows a better comprehension of clinical consequences of atypical genomic rearrangements. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37360","type":"journal-article","created":{"date-parts":[[2015,9,30]],"date-time":"2015-09-30T05:59:12Z","timestamp":1443592752000},"page":"3197-3203","source":"Crossref","is-referenced-by-count":2,"title":["Rare genomic rearrangement in a boy with Williams\u2013Beuren syndrome associated to XYY syndrome and intriguing behavior"],"prefix":"10.1002","volume":"167","author":[{"given":"Roberta L.","family":"Dutra","sequence":"first","affiliation":[{"name":"Genetics Unit Instituto da Crian\u00e7a Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"},{"name":"Department of Pathology Cytogenomics Lab \u2010 LIM03 Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavia B.","family":"Piazzon","sequence":"additional","affiliation":[{"name":"Department of Pathology Cytogenomics Lab \u2010 LIM03 Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9velin A.","family":"Zanardo","sequence":"additional","affiliation":[{"name":"Department of Pathology Cytogenomics Lab \u2010 LIM03 Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thais Virginia Moura Machado","family":"Costa","sequence":"additional","affiliation":[{"name":"Department of Pathology Cytogenomics Lab \u2010 LIM03 Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00edlia M.","family":"Montenegro","sequence":"additional","affiliation":[{"name":"Genetics Unit Instituto da Crian\u00e7a Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"},{"name":"Department of Pathology Cytogenomics Lab \u2010 LIM03 Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gil M.","family":"Novo\u2010Filho","sequence":"additional","affiliation":[{"name":"Genetics Unit Instituto da Crian\u00e7a Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"},{"name":"Department of Pathology Cytogenomics Lab \u2010 LIM03 Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre T.","family":"Dias","sequence":"additional","affiliation":[{"name":"Department of Pathology Cytogenomics Lab \u2010 LIM03 Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amom M.","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Genetics Unit Instituto da Crian\u00e7a Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"},{"name":"Department of Pathology Cytogenomics Lab \u2010 LIM03 Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chong Ae","family":"Kim","sequence":"additional","affiliation":[{"name":"Genetics Unit Instituto da Crian\u00e7a Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie D.","family":"Kulikowski","sequence":"additional","affiliation":[{"name":"Department of Pathology Cytogenomics Lab \u2010 LIM03 Faculdade de Medicina da Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo Brazil"},{"name":"Department of Collective Health \u2010 Human Reproduction and Genetics Center Faculdade de Medicina do ABC Santo Andr\u00e9 S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9,30]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.071712"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2008-9-12-r182"},{"key":"e_1_2_8_4_1","first-page":"756","article-title":"Williams syndrome starts making sense","volume":"59","author":"Ashkenas J","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.08.024"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.05.037"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/376565"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.26.6.1235"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32584"},{"key":"e_1_2_8_10_1","first-page":"478","article-title":"Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes","volume":"36","author":"Botta A","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2011.07.010"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2012.02.013"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32652"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000347167"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35784"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.044537"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12305"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80077-X"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.108"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.101"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.526"},{"key":"e_1_2_8_22_1","first-page":"267","article-title":"The XYY syndrome: A follow\u2010up study on 38 boys","volume":"14","author":"Geerts M","year":"2003","journal-title":"Genet Couns"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.e99"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp011"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000076975.10224.67"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2012.07.001"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034009"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.136"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034009"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0827-2"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(60)90138-5"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20496"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30286"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33334"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012349"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1086\/302722"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2014.01.033"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-0719"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000612)96:3<317::AID-AJMG17>3.0.CO;2-R"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/aur.169"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.05.002"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-008-8401-y"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700406"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1116142"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200396"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2006.12.009"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.76"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.24.6.1311"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2009.05.005"}],"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.37360","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37360","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:26:54Z","timestamp":1696634814000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37360"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,30]]},"references-count":48,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["10.1002\/ajmg.a.37360"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37360","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9,30]]}}}