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      Cytogenetic Studies in Balkan Endemic Nephropathy

      a , b , a

      Nephron

      S. Karger AG

      Balkan endemic nephropathy, Chromosome marker, Homolog discordance

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          Abstract

          The G band characteristic of chromosomes in 15 patients with Balkan endemic nephropathy (BEN), 20 relatives with no features of the disease and 25 healthy controls were investigated by cytogenetic analysis of lymphocyte cultures from peripheral blood. A specific chromosome marker in BEN was established in one No. 3 chromosome homologue characterized by a discordance in the banding patterns of the long arm, shortening the band 3q25 with faster fusion of subbands q26.1 and q26.3, and lack of differentiation of q24. Among the patients there were a mosaic case with a caryotype: 46, XY/46, XY, t(1;3) (q11.2;q25) and another one with a t(2;3)(p11.2; q25) in a tetraploid lymphocyte cell. The evidence of shortening of q25 and postzygotic mutations for 1/3 translocation and 2/3 translocation with the breakpoints on chromosome 3 being in 3q25 suggested that the critical band for BEN is 3q25.

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          Author and article information

          Journal
          NEF
          Nephron
          10.1159/issn.1660-8151
          Nephron
          S. Karger AG
          1660-8151
          2235-3186
          1988
          1988
          09 December 2008
          : 48
          : 1
          : 18-21
          Affiliations
          aDepartment of Medical Genetics, Medico-Biological Institute, bDepartment of Nephrology, NINUHT, Medical Academy, Sofia, Bulgaria
          Article
          184862 Nephron 1988;48:18–21
          10.1159/000184862
          3422361
          © 1988 S. Karger AG, Basel

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          Page count
          Pages: 4
          Categories
          Original Paper

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