title: Myelodysplastic syndrome in childhood: report of two cases with deletion of chromosome 4 and the Philadelphia chromosome.
abstract: We report two pediatric patients with unclassified myelodysplastic syndrome (MDS) by the French-American-British (FAB) group. Both cases had clinical and hematological peculiarities, which had not been described yet. The cytogenetic alterations were 4q deletion and the Philadelphia (Ph) chromosome which appeared at different moments of the disease. One patient showed the Ph chromosome at disease transformation and the other at diagnosis. The different breakpoints at 4q and the presence of Ph could be a marker of this form of MDS. The association of clinical and hematological findings suggests the possibility of a new group of pediatric MDS.
authors: Discipline of Genetics, Department of Morphology, Universidade Federal de São Paulo UNIFESP/EPM, 740, 04023-900 São Paulo, SP, Rua Botucata, Brazil.
authors: Cristiane Arruda
authors: CA
authors: Dalla Torre
authors: Maria Lucia
authors: ML
authors: de Martino Lee
authors: Maisa
authors: M
authors: Yoshimoto
authors: Luiz Fernando
authors: LF
authors: Lopes
authors: Ligia Niero
authors: LN
authors: Melo
authors: Silvia Regina
authors: SR
authors: Caminada de Toledo
authors: Joyce Anderson
authors: JA
authors: Duffles Andrade
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D020732:Cytogenetic Analysis; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D009190:Myelodysplastic Syndromes / Q000145:classification / Q000235:genetics*; D010677:Philadelphia Chromosome