Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome. Issue 12 (24th September 2014)

• Record Type: Journal Article
• Authors: Quintero‐Rivera, Fabiola; Woo, Jennifer S.; Bomberg, Eric M.; Wallace, W. Dean; Peredo, Jane; Dipple, Katrina M.
• Is Part Of: American journal of medical genetics. Volume 164:Issue 12(2014.)
• Page Start: 3076
• Page End: 3082
• Publication Date: 2014-09-24
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36767
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36767-sec-0001" sec-type="section"> <p>Deletions of chromosome 17q12 [OMIM 614527] encompass a wide range of phenotypes, including renal cysts, diabetes mellitus, pancreatic structural abnormalities, genital tract anomalies, developmental delay, learning difficulties, and more recently, autism spectrum disorder and schizophrenia. To date, gastrointestinal malformations have not been fully characterized in this syndrome. In this case report, we describe a four‐year‐old 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 <italic>HNF1B</italic> (hepatocyte nuclear factor beta). It is hypothesized that <italic>HNF1B</italic> may play a role in intestinal differentiation and development. Our clinical report further expands the pre‐and post‐natal presentation of this rare microdeletion syndrome. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>