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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
Author(s) -
Cavani Simona,
Perfumo Chiara,
Argusti Alessandra,
Pierluigi Mauro,
Perroni Lucia,
Schmiegelow Kjeld,
Petersen Michael B.,
Cotter Finbarr E.,
Strigini Paolo,
DagnaBricarelli Franca,
NižetiĆ Dean
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.00924.x
Subject(s) - chromosome 21 , down syndrome , genetics , biology , chromosome , allele , cytogenetics , microbiology and biotechnology , gene
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‐non‐leukaemic 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.