{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T14:42:58Z","timestamp":1785422578712,"version":"3.56.0"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,12,26]],"date-time":"2013-12-26T00:00:00Z","timestamp":1388016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2014,4]]},"abstract":"ABSTRACT<\/jats:title>Objectives<\/jats:title>Conotruncal heart defects (CTD<\/jats:styled-content>) are associated with del22q11.2 syndrome, which is often diagnosed by fluorescence<\/jats:italic> in\u2010situ hybridization (FISH<\/jats:styled-content>). However, in those negative for del22q11.2 on FISH<\/jats:styled-content>, the etiology is usually obscure. We aimed to use high\u2010resolution array comparative genomic hybridization (array CGH<\/jats:styled-content>) to clarify the underlying genetic causes in these cases<\/jats:italic>.<\/jats:p><\/jats:sec>Methods<\/jats:title>In this retrospective study, fetal samples of amniocytes or fibroblasts, taken either for prenatal diagnosis by amniocentesis or for postnatal survey after termination of pregnancy, were obtained from 45 fetuses with CTD<\/jats:styled-content> and were investigated by cytogenetic analysis including karyotyping and FISH<\/jats:styled-content> for del22q11.2 syndrome. Eight fetuses with no findings on karyotyping and FISH<\/jats:styled-content> were investigated further by array CGH<\/jats:styled-content>, real\u2010time quantitative polymerase chain reaction (qPCR<\/jats:styled-content>) and Sanger sequencing of<\/jats:italic> TBX1<\/jats:styled-content>.<\/jats:p><\/jats:sec>Results<\/jats:title>Array CGH<\/jats:styled-content> revealed that three of the eight fetuses carried submicroscopic genomic imbalances. Of these, two cases showed similar small microdeletions\/duplications in 22q11.2 (one 0.85\u2009kb microdeletion and one 8.51\u2009kb microduplication). The minimal shared region spanned exon 2 of<\/jats:italic> TBX1<\/jats:styled-content>, a candidate gene responsible for cardiovascular defects in del22q11.2 syndrome. In all eight cases, the array CGH<\/jats:styled-content> results were confirmed by qPCR<\/jats:styled-content>, and Sanger sequencing did not detect other molecular pathologies<\/jats:italic>.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Our findings indicate an association between<\/jats:italic> TBX1<\/jats:styled-content> variations and fetal CTD<\/jats:styled-content>. The results also demonstrate the power of array CGH<\/jats:styled-content> to further scrutinize the critical gene(s) of del22q11.2 syndrome responsible for heart defects. Array CGH<\/jats:styled-content> apparently has diagnostic sensitivity superior to that of FISH<\/jats:styled-content> in fetuses with CTD<\/jats:styled-content> associated with del22q11.2 (and dup22q11.2) syndrome. Copyright \u00a9 2013 ISUOG. Published by John Wiley & Sons Ltd<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.12550","type":"journal-article","created":{"date-parts":[[2013,6,25]],"date-time":"2013-06-25T17:04:48Z","timestamp":1372179888000},"page":"396-403","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Microdeletions\/duplications involving TBX1<\/scp><\/i> gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in\u2010situ<\/i> hybridization"],"prefix":"10.1002","volume":"43","author":[{"given":"M.","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Genomic Medicine Changhua Christian Hospital Changhua Taiwan"},{"name":"Department of Obstetrics and Gynecology Changhua Christian Hospital Changhua Taiwan"},{"name":"Department of Obstetrics and Gynecology College of Medicine and Hospital, National Taiwan University Taipei Taiwan"},{"name":"Department of Life Sciences Tunghai University Taichung Taiwan"},{"name":"Department of Obstetrics and Gynecology Chung Shan Medical University Taichung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.\u2010S.","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology College of Medicine and Hospital, National Taiwan University Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010C.","family":"Shih","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology College of Medicine and Hospital, National Taiwan University Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.\u2010H.","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine Changhua Christian Hospital Changhua Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.\u2010J.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine Changhua Christian Hospital Changhua Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.\u2010S.","family":"Lin","sequence":"additional","affiliation":[{"name":"Welgene Biotechnology Company Nangang Business Park Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.\u2010H.","family":"Chou","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology College of Medicine and Hospital, National Taiwan University Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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