{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T09:23:25Z","timestamp":1789032205499,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2017,6,12]],"date-time":"2017-06-12T00:00:00Z","timestamp":1497225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"BONFOR program of the University of Bonn","award":["O-149.0093"],"award-info":[{"award-number":["O-149.0093"]}]},{"name":"Else-Kr-ner-Fresenius-Stiftung","award":["EKFS; JE681\/3-1; 2014_A14"],"award-info":[{"award-number":["EKFS; JE681\/3-1; 2014_A14"]}]},{"name":"Deutsche Forschungsgemeinschaft DFG","award":["LU 713\/3-1 and RE 1723\/2-1"],"award-info":[{"award-number":["LU 713\/3-1 and RE 1723\/2-1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>The acronym VATER\/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER\/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER\/VACTERL\u2010like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER\/VACTERL association and VATER\/VACTERL\u2010like phenotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To detect further causative CNVs we performed array based molecular karyotyping in 75 VATER\/VACTERL and 40 VATER\/VACTERL\u2010like patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Following the application of stringent filter criteria, we identified 13 microdeletions and seven microduplications in 20 unrelated patients all of which were absent in 1,307 healthy inhouse controls (<jats:italic>n<\/jats:italic> &lt; 0.0008). Among these, microdeletion at 17q12 was confirmed to be de novo. Three microdeletions at 5q23.1, 16q23.3, 22q11.21, and one microduplication at 10q11.21 were all absent in the available parent. Microdeletion of chromosomal region 22q11.21 was previously found in VATER\/VACTERL patients rendering it to be causative in our patient. The remaining 15 CNVs were inherited from a healthy parent.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In two of 115 patients' causative CNVs were found (2%). The remaining identified rare CNVs represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial VATER\/VACTERL or VATER\/VACTERL\u2010like phenotypes. Birth Defects Research 109:1063\u20131069, 2017. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1042","type":"journal-article","created":{"date-parts":[[2017,6,12]],"date-time":"2017-06-12T10:06:38Z","timestamp":1497261998000},"page":"1063-1069","source":"Crossref","is-referenced-by-count":27,"title":["Array\u2010based molecular karyotyping in 115 VATER\/VACTERL and VATER\/VACTERL\u2010like patients identifies disease\u2010causing copy number variations"],"prefix":"10.1002","volume":"109","author":[{"given":"Rong","family":"Zhang","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life &amp; Brain Center Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Marsch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franziska","family":"Kause","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franziska","family":"Degenhardt","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Department of Genomics Life &amp; 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