title: Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia.
abstract: BACKGROUND
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Cytogenetic, The National Center for Bone Marrow Transplantation (CEMO-INCa), National Cancer Institute (INCa), Rio de Janeiro, RJ, Brazil. mlmacedosilva@hotmail.com.
authors.forename: Maria Luiza Macedo
authors.initials: ML
authors.lastname: Silva
authors.forename: Maria do Socorro
authors.initials: MS
authors.lastname: Pombo-de-Oliveira
authors.forename: Susana C
authors.initials: SC
authors.lastname: Raimondi
authors.forename: Hasmik
authors.initials: H
authors.lastname: Mkrtchyan
authors.forename: Eliana
authors.initials: E
authors.lastname: Abdelhay
authors.forename: Amanda Faria
authors.initials: AF
authors.lastname: de Figueiredo
authors.forename: Mariana Tavares
authors.initials: MT
authors.lastname: de Souza
authors.forename: Daniela Ribeiro Ney
authors.initials: DR
authors.lastname: Garcia
authors.forename: Eliane Maria Soares
authors.initials: EM
authors.lastname: de Ventura
authors.forename: Adriana Martins
authors.initials: AM
authors.lastname: de Sousa
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr