Open AccessASSOCIATION BETWEEN DELETION 18Q AND TERMINAL DUPLICATION 1P IN PATIENT WITH BILATERAL VESICO-URETERAL REFLUX: CASE REPORT AND LITERATURE REVISION
Author(s) -
E. Brandigi,
Anna Lavinia Bulotta,
A. Burgio,
Francesco Molinaro,
M. Pavone,
M. Messina
Publication year - 2012
Publication title -
journal of the siena academy of sciences
Language(s) - English
Resource type - Journals
eISSN - 2279-882X
pISSN - 2279-8811
DOI - 10.4081/jsas.2012.57.1
Subject(s) - reflux , gene duplication , medicine , disease , biology , genetics , gene
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)