{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T11:41:30Z","timestamp":1792669290501,"version":"4.5.0"},"reference-count":34,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,9,24]],"date-time":"2013-09-24T00:00:00Z","timestamp":1379980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>As patients with congenital heart disease (CHD) increasingly survive to childbearing age, it becomes important to understand the genetic origins of CHD. In children, CHD is frequently caused by chromosomal imbalances. We searched for submicroscopic imbalances in adults with CHD focusing on simple\u2010to\u2010moderate phenotypes, without associated dysmorphic features, a group not previously examined. A total of 100 Han Chinese adults with a diverse range of isolated CHD and 65 ethnically matched controls were screened using whole\u2010genome array comparative genomic hybridization. Forty\u2010five large (&gt;100\u2009kb) rare copy number variants (CNVs) were identified in 36\/100 patients. These variants were not listed in the Database of Genomic Variants nor found in controls. In three of these genomic imbalances (22q11.2, 18q23, 3q21.3), genes that play an important role in cardiac development were implicated, including <jats:italic>CRKL<\/jats:italic>, <jats:italic>NFATC1<\/jats:italic>, <jats:italic>PLXNA1<\/jats:italic>, the latter has not been associated with human CHD before. This study detected a 0.7\u2009Mb 22q11.2 deletion, which marginally overlapped the common 3\u2009Mb 22q11.2 deletion, in one patient with a perimembranous ventricular septal defect without any extracardiac manifestation. Furthermore, we detected a novel inherited aberration dup (16q23.1). Although a causal relationship with CHD remains to be established, this CNVs profile provides a spectrum of genomic imbalances in this condition, and improves the CNV\u2010phenotype correlations. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36177","type":"journal-article","created":{"date-parts":[[2013,10,11]],"date-time":"2013-10-11T21:42:19Z","timestamp":1381527739000},"page":"3087-3094","source":"Crossref","is-referenced-by-count":24,"title":["High\u2010resolution analysis of copy number variants in adults with simple\u2010to\u2010moderate congenital heart disease"],"prefix":"10.1002","volume":"161","author":[{"given":"Wei","family":"Zhao","sequence":"first","affiliation":[{"name":"The Cardiovascular Center The First Hospital of Jilin University Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guannan","family":"Niu","sequence":"additional","affiliation":[{"name":"Fuwai Cardiovascular Hospital Beijing 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