{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T04:47:15Z","timestamp":1649134035245},"reference-count":4,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,4,21]],"date-time":"2020-04-21T00:00:00Z","timestamp":1587427200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,4,21]],"date-time":"2020-04-21T00:00:00Z","timestamp":1587427200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Cardiothorac Surg"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Interstitial deletions within the long arm of chromosome 2, involving the 2q31q33 region, are rare but are known to be associated with delays in development, behavioral problems, facial dysmorphism and various hand\/foot anomalies.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>Here, we describe a case with an interstitial 2q31.3.q32.2 deletion, presenting the previously described phenotype, exhibiting fibromyxoid degeneration of the aortic valve in addition to previously described clinical features.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>Interstitial deletion in chromosome 2q31.2q32.3 might be associated to a fibromyxoid degeneration of valvular leaflets generating regurgitation. Patients diagnosed with this mutation may require investigation to rule out a valvular disease.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s13019-020-01104-3","type":"journal-article","created":{"date-parts":[[2020,4,21]],"date-time":"2020-04-21T15:04:34Z","timestamp":1587481474000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: early aortic valve degeneration associated with interstitial deletion of chromosome 2\u201346,XX,del (2)(q31.3; q32.2)"],"prefix":"10.1186","volume":"15","author":[{"given":"Raymond","family":"Pfister","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara","family":"Knowles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Kirsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,4,21]]},"reference":[{"key":"1104_CR1","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1002\/ajmg.a.32688","volume":"149A","author":"P Prontera","year":"2009","unstructured":"Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, Novelli A, Dallapiccola B, Donti E. 2q31.2q32.3 deletion syndrome: report of an adult patient. Am J Med Genet A. 2009;149A:706\u201312.","journal-title":"Am J Med Genet A"},{"key":"1104_CR2","volume-title":"Delineation of 2q32q35 deletion phenotypes: two apparent \u201cproximal\u201d and \u201cdistal\u201d syndromes case rep genet","author":"A Mc Cormack","year":"2013","unstructured":"Mc Cormack A, Taylor J, Gregersen N, George AM, Love DR. Delineation of 2q32q35 deletion phenotypes: two apparent \u201cproximal\u201d and \u201cdistal\u201d syndromes case rep genet; 2013."},{"key":"1104_CR3","doi-asserted-by":"publisher","first-page":"560","DOI":"10.1002\/ajmg.a.38590","volume":"176","author":"B Qui\u00f1ones-P\u00e9rez","year":"2018","unstructured":"Qui\u00f1ones-P\u00e9rez B, VanNoy GE, Towne MC, Shen Y, Singh MN, Agrawal PB, Smith SE. Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome. Am J Med Genet A. 2018;176:560\u20139.","journal-title":"Am J Med Genet A"},{"key":"1104_CR4","doi-asserted-by":"publisher","first-page":"18","DOI":"10.3389\/fsurg.2018.00018","volume":"5","author":"M Zakkar","year":"2018","unstructured":"Zakkar M, Mr BVD, Visan AC, Curtis S, Angelini G, Lansac E. Stoica S Surgery for Young Adults With Aortic Valve Disease not Amenable to Repair. Front Surg. 2018;5:18.","journal-title":"Front Surg"}],"container-title":["Journal of Cardiothoracic Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13019-020-01104-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13019-020-01104-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13019-020-01104-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T00:29:41Z","timestamp":1618964981000},"score":1,"resource":{"primary":{"URL":"https:\/\/cardiothoracicsurgery.biomedcentral.com\/articles\/10.1186\/s13019-020-01104-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,21]]},"references-count":4,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1104"],"URL":"https:\/\/doi.org\/10.1186\/s13019-020-01104-3","relation":{},"ISSN":["1749-8090"],"issn-type":[{"value":"1749-8090","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,21]]},"assertion":[{"value":"9 January 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 April 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 April 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patient consented for publication.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"There are no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"64"}}