TY - JOUR
T1 - The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene
AU - Aricò, Maurizio
AU - Dellavecchia, Claudia
AU - Piantanida, Mauro
AU - Clementi, Rita
AU - Hasle, Henrik
AU - Conter, Valentino
AU - D'Angelo, Paolo
AU - Varotto, Stefania
AU - Santoro, Nicola
AU - Danesino, Cesare
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
KW - Chromosome 9
KW - Haemophagocytic lymphohistiocytosis
KW - Haemophagocytosis
KW - Histiocytosis
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U2 - 10.1046/j.1365-2141.1999.01151.x
DO - 10.1046/j.1365-2141.1999.01151.x
M3 - Article
C2 - 10027721
AN - SCOPUS:0032926536
VL - 104
SP - 108
EP - 110
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 1
ER -