RESUMO
Cytogenetic analysis of bone marrow cells was performed on a 2-year-old African-American male with Down syndrome (DS) and myelodysplastic syndrome (MDS), specifically refractory anemia with excess blasts in transformation (RAEB-T). Chromosome analysis showed, in addition to the constitutional trisomy 21, a trisomy of chromosome 11 and a dup(1)(q23q31). This duplication of 1q is apparently a new chromosomal abnormality in a child with MDS. Partial trisomy of the long arm of chromosome 1 has been reported by several authors and appears to represent a nonrandom chromosomal anomaly in patients with MDS/acute myelogenous leukemia and DS.
Assuntos
Anemia Refratária com Excesso de Blastos/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 1 , Síndrome de Down/genética , Anemia Refratária com Excesso de Blastos/complicações , Anemia Refratária com Excesso de Blastos/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Pré-Escolar , Síndrome de Down/complicações , Humanos , Cariotipagem , Ativação Linfocitária , MasculinoRESUMO
We report 2 cases of myelodysplastic syndrome associated with cirrhosis caused by primary biliary cirrhosis and alpha1-antitrypsin deficiency. The etiology of myelodysplasia and its implication in liver transplantation is discussed.