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- W2091124666 abstract "Constitutional trisomy 21 Down syndrome (DS) is a factor of predisposition to childhood clonal hematologic disorders, which include neonatal transient myeloproliferative disorder (TMD) and acute leukemia. On presentation, TMD has clinical and biological features in common with acute leukemia but spontaneously resolves without the need of specific therapy. Interestingly, about 25% of DS neonates with TMD will develop AMKL within 0.5 to 3 years, a condition that is quite rare in normal children. Cytogenetic studies in patients with DS and TMD revealed in many instances no chromosomal abnormality other than constitutive trisomy 21, suggesting a multiple step process for the full expression of acute myeloblastic M7 leukemia (AMKL) [ [1] Litz C.E. Davies S. Brunning R.D. Kueck B. Parkin J.L. Gajl Peczalska K. Arthur D.C. Acute leukemia and the transient myeloproliferative disorder associated with Down syndrome: morphologic, immunophenotypic and cytogenetic manifestations. Leukemia. 1995; 9: 1432-1439 PubMed Google Scholar ]. The diversity of chromosomal abnormalities and the frequent association in complex karyotypes characterize AMKL [ [2] Dastugue N. Lafage-Pochitaloff M. Pages M.P. Radford I. Bastard C. Talmant P. Mozziconacci M.J. Leonard C. Bilhou-Nabera C. Cabrol C. Capodano A.M. Cornillet-Lefebvre P. Lessard M. Mugneret F. Perot C. Taviaux S. Fenneteaux O. Duchayne E. Berger R. Groupe Français d'Hématologie Cellulaire Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7): a study of the Groupe Français de Cytogénétique Hématologique (GFCH). Blood. 2002; 100: 618-626 Crossref PubMed Scopus (127) Google Scholar ]. Here, we describe a case of an unbalanced t(5;7) associated with the loss of 5p material in DS with AMKL by conventional cytogenetic and FISH analyses, and discuss connections between chromosome 21 trisomy, TMD, and this unusual form of childhood leukemia." @default.
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- W2091124666 date "2006-09-01" @default.
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- W2091124666 title "Acute megakaryoblastic leukemia with der(7)t(5;7)(q11;p11∼p12) associated with Down syndrome: a fourth case report" @default.
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- W2091124666 doi "https://doi.org/10.1016/j.cancergencyto.2006.03.006" @default.
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