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To date, gastrointestinal malformations have not been fully characterized in this syndrome. In this case report, we describe a four\u2010year\u2010old girl with a 17q12 microdeletion who was born with duodenal atresia, bilateral renal cysts, left kidney dysplasia, a midline cystic structure at the conus medullaris, and dysmorphic features. Both the patient and her affected father were found to have a deletion of 17q12, which encompasses the <jats:italic>HNF1B<\/jats:italic> (hepatocyte nuclear factor beta). It is hypothesized that <jats:italic>HNF1B<\/jats:italic> may play a role in intestinal differentiation and development. Our clinical report further expands the pre\u2010and post\u2010natal presentation of this rare microdeletion syndrome. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36767","type":"journal-article","created":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T17:17:33Z","timestamp":1411579053000},"page":"3076-3082","source":"Crossref","is-referenced-by-count":27,"title":["Duodenal atresia in 17q12 microdeletion including <i>HNF1B<\/i>: A new associated malformation in this syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Fabiola","family":"Quintero\u2010Rivera","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine David Geffen School of Medicine Los Angeles California"},{"name":"UCLA Clinical Genomics Center Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer S.","family":"Woo","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine David Geffen School of Medicine Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric M.","family":"Bomberg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics David Geffen School of Medicine at UCLA Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. 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