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  • 标题:ASSOCIATION BETWEEN DELETION 18Q AND TERMINAL DUPLICATION 1P IN PATIENT WITH BILATERAL VESICO-URETERAL REFLUX: CASE REPORT AND LITERATURE REVISION
  • 作者:E. Brandigi ; A.L. Bulotta ; A. Burgio
  • 期刊名称:Journal of the Siena Academy of Sciences
  • 印刷版ISSN:2279-8811
  • 电子版ISSN:2279-8811
  • 出版年度:2012
  • 卷号:4
  • 期号:1
  • 页码:57
  • 语种:English
  • 出版社:PAGEPress Publications
  • 摘要: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).
  • 关键词:Vesico-ureteral reflux;deletion of 18q;duplication of 1p
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