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

doi:10.1046/j.1365-2141.1999.01151.x

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

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

Abstract

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 language	English
Pages (from-to)	108-110
Number of pages	3
Journal	British Journal of Haematology
Volume	104
Issue number	1
DOIs	https://doi.org/10.1046/j.1365-2141.1999.01151.x
Publication status	Published - 1999

Keywords

Chromosome 9
Haemophagocytic lymphohistiocytosis
Haemophagocytosis
Histiocytosis

ASJC Scopus subject areas

Hematology

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10.1046/j.1365-2141.1999.01151.x

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Aricò, M., Dellavecchia, C., Piantanida, M., Clementi, R., Hasle, H., Conter, V., D'Angelo, P., Varotto, S., Santoro, N., & Danesino, C. (1999). The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene. British Journal of Haematology, 104(1), 108-110. https://doi.org/10.1046/j.1365-2141.1999.01151.x

The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene. / Aricò, Maurizio; Dellavecchia, Claudia; Piantanida, Mauro; Clementi, Rita; Hasle, Henrik; Conter, Valentino; D'Angelo, Paolo; Varotto, Stefania; Santoro, Nicola; Danesino, Cesare.

In: British Journal of Haematology, Vol. 104, No. 1, 1999, p. 108-110.

Research output: Contribution to journal › Article › peer-review

Aricò, M, Dellavecchia, C, Piantanida, M, Clementi, R, Hasle, H, Conter, V, D'Angelo, P, Varotto, S, Santoro, N & Danesino, C 1999, 'The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene', British Journal of Haematology, vol. 104, no. 1, pp. 108-110. https://doi.org/10.1046/j.1365-2141.1999.01151.x

Aricò, Maurizio ; Dellavecchia, Claudia ; Piantanida, Mauro ; Clementi, Rita ; Hasle, Henrik ; Conter, Valentino ; D'Angelo, Paolo ; Varotto, Stefania ; Santoro, Nicola ; Danesino, Cesare. / The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene. In: British Journal of Haematology. 1999 ; Vol. 104, No. 1. pp. 108-110.

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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

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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.

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

Abstract

Keywords

ASJC Scopus subject areas

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