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ASSOCIATION BETWEEN DELETION 18Q AND TERMINAL DUPLICATION 1P IN PATIENT WITH BILATERAL VESICO-URETERAL REFLUX: CASE REPORT AND LITERATURE REVISION

E. Brandigi, A.L. Bulotta, A. Burgio, F. Molinaro, M. Pavone, M. Messina
  • E. Brandigi
    Section of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Italy, Italy | office@pagepress.org
  • A.L. Bulotta
    Section of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Italy, Italy
  • A. Burgio
    Section of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Italy, Italy
  • F. Molinaro
    Section of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Italy, Italy
  • M. Pavone
    Section of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Italy, Italy
  • M. Messina
    Section of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Italy, Italy

Abstract

Vesico-ureteral reflux (VUR) is a dynamic event in which is present a retrograde flow of urine into the upper tracts. VUR may occur isolated or in association with other congenital abnormalities or as part of syndromic entities.
We present a patient with a bilateral primary VUR, plurisyndromic disease caused by a large deletion of 18q (18q21.3- qter) and terminal duplication of 1p (1p36.32-p36.33).

Keywords

Vesico-ureteral reflux; deletion of 18q; duplication of 1p

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Submitted: 2013-04-12 10:06:28
Published: 2012-12-01 00:00:00
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Copyright (c) 2012 E. Brandigi, A.L. Bulotta, A. Burgio, F. Molinaro, M. Pavone, M. Messina

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