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Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q.

Authors :
Cavani S
Perfumo C
Argusti A
Pierluigi M
Perroni L
Schmiegelow K
Petersen MB
Cotter FE
Strigini P
Dagna-Bricarelli F
Nizetić D
Source :
British journal of haematology [Br J Haematol] 1998 Oct; Vol. 103 (1), pp. 213-6.
Publication Year :
1998

Abstract

Down syndrome (DS) children have a 10-20-fold increased risk of developing ALL or AML compared to non-DS children. An increased disomic homozygosity of the polymorphic DNA markers in the pericentromeric region of chromosome 21q (21q11) has repeatedly been found in DS patients with ANLL-M7 and DS-specific transient abnormal myelopoiesis (TAM), compared to the majority of DS subjects without leukaemia. Analysis of cytogenetic heteromorphisms and 26 polymorphic DNA markers from chromosome 21q showed an increased number of pericentromeric crossovers between the non-disjoined chromosomes in DS-ANLL cases (3/11), compared to DS-ALL (0/9) and DS-nonleukaemic cases (0/12). These findings are compatible with the model of disomic homozygosity of the predisposing allele of a putative pericentromeric gene, as an explanation for the high prevalence of ANLL in DS.

Details

Language :
English
ISSN :
0007-1048
Volume :
103
Issue :
1
Database :
MEDLINE
Journal :
British journal of haematology
Publication Type :
Academic Journal
Accession number :
9792310
Full Text :
https://doi.org/10.1046/j.1365-2141.1998.00924.x