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


https://doi.org/10.4081/jsas.2012.1569
Vol. 4 No. 1 (2012)
Submitted: 12 April 2013
Accepted: 12 April 2013
Published: 1 December 2012
Vesico-ureteral reflux, deletion of 18q, duplication of 1p
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Authors

  • E. Brandigi
    office@pagepress.org
    Section of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Italy, Italy.
  • 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.
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).

Brandigi, E., Bulotta, A., Burgio, A., Molinaro, F., Pavone, M., & Messina, M. (2012). ASSOCIATION BETWEEN DELETION 18Q AND TERMINAL DUPLICATION 1P IN PATIENT WITH BILATERAL VESICO-URETERAL REFLUX: CASE REPORT AND LITERATURE REVISION. Journal of the Siena Academy of Sciences, 4(1), 57. https://doi.org/10.4081/jsas.2012.1569

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