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

E. Brandigi | Zendy; A.L. Bulotta | Zendy; A. Burgio | Zendy; Francesco Molinaro | Zendy; Mary Ellen Pavone | Zendy; M. Messina | Zendy

Open Access

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

Author(s) -

E. Brandigi,

A.L. Bulotta,

A. Burgio,

Francesco Molinaro,

Mary Ellen 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)

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