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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

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-spe... Full description

Journal Title: British journal of haematology October 1998, Vol.103(1), pp.213-6
Main Author: Cavani, S
Other Authors: Perfumo, C , Argusti, A , Pierluigi, M , Perroni, L , Schmiegelow, K , Petersen, M B , Cotter, F E , Strigini, P , Dagna-Bricarelli, F , Nizetić, D
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: ISSN: 0007-1048 ; PMID: 9792310 Version:1
Link: http://pubmed.gov/9792310
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recordid: medline9792310
title: Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q
format: Article
creator:
  • Cavani, S
  • Perfumo, C
  • Argusti, A
  • Pierluigi, M
  • Perroni, L
  • Schmiegelow, K
  • Petersen, M B
  • Cotter, F E
  • Strigini, P
  • Dagna-Bricarelli, F
  • Nizetić, D
subjects:
  • Chromosomes, Human, Pair 21 -- Genetics
  • Down Syndrome -- Genetics
  • Leukemia, Myeloid, Acute -- Genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma -- Genetics
ispartof: British journal of haematology, October 1998, Vol.103(1), pp.213-6
description: 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.
language: eng
source:
identifier: ISSN: 0007-1048 ; PMID: 9792310 Version:1
fulltext: fulltext
issn:
  • 00071048
  • 0007-1048
url: Link


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titleCytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q
creatorCavani, S ; Perfumo, C ; Argusti, A ; Pierluigi, M ; Perroni, L ; Schmiegelow, K ; Petersen, M B ; Cotter, F E ; Strigini, P ; Dagna-Bricarelli, F ; Nizetić, D
ispartofBritish journal of haematology, October 1998, Vol.103(1), pp.213-6
identifierISSN: 0007-1048 ; PMID: 9792310 Version:1
subjectChromosomes, Human, Pair 21 -- Genetics ; Down Syndrome -- Genetics ; Leukemia, Myeloid, Acute -- Genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma -- Genetics
descriptionDown 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.
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titleCytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q
descriptionDown 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.
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titleCytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q
authorCavani, S ; Perfumo, C ; Argusti, A ; Pierluigi, M ; Perroni, L ; Schmiegelow, K ; Petersen, M B ; Cotter, F E ; Strigini, P ; Dagna-Bricarelli, F ; Nizetić, D
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atitleCytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q
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abstractDown 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.
pmid9792310
doi10.1046/j.1365-2141.1998.00924.x
eissn13652141
date1998-10