{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:15:16Z","timestamp":1761844516999,"version":"3.38.0"},"reference-count":6,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2015,4,1]],"date-time":"2015-04-01T00:00:00Z","timestamp":1427846400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["World J Pediatr Congenit Heart Surg"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:p> Chromosome 22q11.2 microdeletion is the most common microdeletion syndrome. Mosaic 22q11.2 deletions are very rare and only a few have been reported. We describe a case of a neonate with tetralogy of Fallot with absent pulmonary valve with mosaic 22q11.2 deletion. Fluorescent in situ hybridization analysis of lymphocytes showed a hemizygous 22q11.2 microdeletion in 66% of interphase nuclei. Microarray testing confirmed a 1.66 Mb deletion at 22q11.2. The child did not have any clinical manifestations of 22q11.2 deletion other than the cardiac malformation. <\/jats:p>","DOI":"10.1177\/2150135114561686","type":"journal-article","created":{"date-parts":[[2015,4,13]],"date-time":"2015-04-13T18:24:08Z","timestamp":1428949448000},"page":"342-345","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Mosaic 22q11.2 Deletion and Tetralogy of Fallot With Absent Pulmonary Valve"],"prefix":"10.1177","volume":"6","author":[{"given":"Sudesh","family":"Prabhu","sequence":"first","affiliation":[{"name":"Queensland Pediatric Cardiac Service, Mater Children\u2019s Hospital, Brisbane, Australia"},{"name":"Department of Surgery, School of Medicine, University of Queensland, Brisbane, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryan","family":"Jenny","sequence":"additional","affiliation":[{"name":"Department of Pathology, Cytogenetics Laboratory, Mater Children\u2019s Hospital, Brisbane, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harraway","family":"James","sequence":"additional","affiliation":[{"name":"Department of Pathology, Cytogenetics Laboratory, Mater Children\u2019s Hospital, Brisbane, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvio","family":"Provenzano","sequence":"additional","affiliation":[{"name":"Queensland Pediatric Cardiac Service, Mater Children\u2019s Hospital, Brisbane, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2015,4,13]]},"reference":[{"key":"bibr1-2150135114561686","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050959"},{"key":"bibr2-2150135114561686","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30916"},{"key":"bibr3-2150135114561686","doi-asserted-by":"publisher","DOI":"10.1002\/pd.917"},{"key":"bibr4-2150135114561686","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-1-18"},{"key":"bibr5-2150135114561686","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(97)89165-5"},{"key":"bibr6-2150135114561686","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31697"}],"container-title":["World Journal for Pediatric and Congenital Heart Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2150135114561686","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2150135114561686","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2150135114561686","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T23:04:39Z","timestamp":1741043079000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2150135114561686"}},"subtitle":["An Unreported Association"],"short-title":[],"issued":{"date-parts":[[2015,4]]},"references-count":6,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1177\/2150135114561686"],"URL":"https:\/\/doi.org\/10.1177\/2150135114561686","relation":{},"ISSN":["2150-1351","2150-136X"],"issn-type":[{"type":"print","value":"2150-1351"},{"type":"electronic","value":"2150-136X"}],"subject":[],"published":{"date-parts":[[2015,4]]}}}