R Nissani

Publications (2)1.53 Total impact

• Article: A prevalent Y;15 translocation in the Ethiopian Beta Israel community in Israel.

  R Chen-Shtoyerman, S Josefsberg Ben-Yehoshua, R Nissani, J Rosensaft, Z Appelman
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  ABSTRACT: We describe 7 cases of abnormal karyotypes involving chromosomes Y and 15 in Ethiopian Beta Israel patients: 46,XX, der(15)t(Y;15)(q12;p12) and 46,XY,der(15)t(Y;15)(q12;p12). Six cases were incidentally found in amniocentesis performed for various indications; the indication for karyotyping in 1 case was recurrent abortions. To the best of our knowledge, this is the first report of this translocation in a specific ethnic group. We conclude that the derivative chromosome 15 with chromosome Y is probably a normal variant in Ethiopian Beta Israel occurring at an estimated frequency of 4/74 (5.4%). The prenatal diagnosis of this translocation in this population probably does not require further parental testing.
  Cytogenetic and Genome Research 02/2012; 136(3):171-4. · 1.53 Impact Factor
• Article: Occurrence of cerebrohepatorenal (Zellweger) syndrome in the Karaite community in Israel: a genetic hypothesis.

  A Zung, B M Mogilner, R Nissani, Z Appelman, Z Gelman de Kohan
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  ABSTRACT: Two infants with the cerebrohepatorenal (Zellweger) syndrome in Karaite families are described. This syndrome has an autosomal recessive mode of inheritance with an estimated incidence of between 1:25,000 and 1:100,000 live births. In addition to a previous report of the syndrome in a Karaite family, this report raises the possibility of a high incidence of Zellweger Syndrome among the Karaites in Israel.
  Israel journal of medical sciences 11/1990; 26(10):570-2.