{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T19:55:35Z","timestamp":1792180535962,"version":"4.4.0"},"reference-count":10,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2014,1,22]],"date-time":"2014-01-22T00:00:00Z","timestamp":1390348800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["journals.cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a case of a baby girl born with hypoplastic left heart syndrome consisting of mitral atresia, aortic atresia, hypoplastic ascending aorta, and left ventricle. The pulmonary arteries were hypoplastic, measuring 3 mm. Fluorescence in situ hybridisation analysis demonstrated a microduplication of chromosome 22q11.2. Subsequent array comparative genomic hybridisation showed a gain of 2.3 Mb in one copy of chromosome 22q at band 22q11.21. The proband underwent a successful Norwood procedure with Sano shunt and subsequently underwent bi-directional Glenn shunt and Fontan procedure. This report highlights the association between hypoplastic left heart syndrome with hypoplastic pulmonary arteries and chromosome 22q11.21 microduplication.<\/jats:p>","DOI":"10.1017\/s104795111300231x","type":"journal-article","created":{"date-parts":[[2014,1,22]],"date-time":"2014-01-22T14:47:01Z","timestamp":1390402021000},"page":"167-170","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":6,"title":["Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries"],"prefix":"10.1017","volume":"25","author":[{"given":"Colin J.","family":"McMahon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conall T.","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie T.","family":"Greally","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2014,1,22]]},"reference":[{"key":"S104795111300231X_ref5","doi-asserted-by":"publisher","DOI":"10.1086\/378818"},{"key":"S104795111300231X_ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.02.008"},{"key":"S104795111300231X_ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31227"},{"key":"S104795111300231X_ref2","first-page":"11","article-title":"The Philadelphia story: the 22q11.2 deletion: report on 250 patients","volume":"10","author":"McDonald-McGinn","year":"1999","journal-title":"Genet Couns"},{"key":"S104795111300231X_ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-007-9150-7"},{"key":"S104795111300231X_ref1","first-page":"924","article-title":"A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11","volume":"50","author":"Driscoll","year":"1992","journal-title":"Am J Hum Genet"},{"key":"S104795111300231X_ref3","doi-asserted-by":"publisher","DOI":"10.1086\/429841"},{"key":"S104795111300231X_ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.03.009"},{"key":"S104795111300231X_ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.08.011"},{"key":"S104795111300231X_ref4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1157"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S104795111300231X","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,21]],"date-time":"2019-04-21T20:47:30Z","timestamp":1555879650000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S104795111300231X\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,22]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["S104795111300231X"],"URL":"https:\/\/doi.org\/10.1017\/s104795111300231x","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,22]]},"assertion":[{"value":"\u00a9 Cambridge University Press 2014\u00a0","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}}]}}