The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene

Maurizio Aricò, Claudia Dellavecchia, Mauro Piantanida, Rita Clementi, Henrik Hasle, Valentino Conter, Paolo D'Angelo, Stefania Varotto, Nicola Santoro, Cesare Danesino

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Haemophagocytic lymphohistiocytosis (HLH) is a severe disorder of early infancy consistent with an autosomal recessive inheritance. Neither the genetic locus nor the biochemical defect is known for the disease. A constitutional pericentric inversion of chromosome 9. with breakpoints in bands 9p23 and 9q31, has been reported in a case of HLH, suggesting a possible relationship between this chromosome abnormality and the disease. We investigated such an association, performing a genetic linkage analysis in a set of five consanguineous HLH families. 27 polymorphic markers on chromosome 9 were studied, excluding most of chromosome 9 as a putative site for the HLH gene.

Original languageEnglish
Pages (from-to)108-110
Number of pages3
JournalBritish Journal of Haematology
Issue number1
Publication statusPublished - 1999



  • Chromosome 9
  • Haemophagocytic lymphohistiocytosis
  • Haemophagocytosis
  • Histiocytosis

ASJC Scopus subject areas

  • Hematology

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