Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia

Children with Down syndrome (DS) have an increased risk of childhood acute leukemia, especially acute megakaryoblastic leukemia (AMKL) also called acute myeloid leukemia (AML) type M7. Here four yet unreported infants with such malignancies are reported. An unbalanced translocation involving chromos...

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Bibliographic Details
Published in:	Molecular cytogenetics Vol. 2; no. 1; p. 7
Main Authors:	Silva, Maria Luiza Macedo, Pombo-de-Oliveira, Maria do Socorro, Raimondi, Susana C, Mkrtchyan, Hasmik, Abdelhay, Eliana, de Figueiredo, Amanda Faria, de Souza, Mariana Tavares, Garcia, Daniela Ribeiro Ney, de Ventura, Eliane Maria Soares, de Sousa, Adriana Martins, Liehr, Thomas
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 19-02-2009 BioMed Central BMC
Subjects:	Demographic aspects Down syndrome Gene mutations Genetic aspects Genetic transcription Brazil
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Summary:	Children with Down syndrome (DS) have an increased risk of childhood acute leukemia, especially acute megakaryoblastic leukemia (AMKL) also called acute myeloid leukemia (AML) type M7. Here four yet unreported infants with such malignancies are reported. An unbalanced translocation involving chromosome 1 was identified by GTG banding in all cases. These were characterized in more detail by molecular cytogenetic approaches. Additional molecular analysis revealed in three of the four cases mutations in exon 2 of the GATA binding protein 1 (globin transcription factor 1), located in Xp11.23. Our results corroborate that abnormalities of chromosome 1 are common in DS-associated AMKL. Whether this chromosomal region contains gene(s) involved in hematopoietic malignant transformation remains to be determined.
Bibliography:	SourceType-Other Sources-1 content type line 63 ObjectType-Editorial-2 ObjectType-Commentary-1
ISSN:	1755-8166 1755-8166
DOI:	10.1186/1755-8166-2-7