RESUMO
Monosomy 21 is a rare acquired karyotypic abnormality associated with myeloid disorders. Occurrence of loss of one chromosome 21 in the background of trisomy 21 in Down syndrome, resulting in the pseudo-normalization of trisomy 21, is a novel finding. The case is described of a patient with Down syndrome who acquired such a genetic abnormality as a result of myelodysplastic syndrome.
Assuntos
Cromossomos Humanos Par 21 , Síndrome de Down/complicações , Síndrome de Down/genética , Síndromes Mielodisplásicas/complicações , Síndromes Mielodisplásicas/genética , Trissomia , Feminino , Humanos , Cariotipagem , Pessoa de Meia-Idade , MosaicismoRESUMO
Trisomy 12, t(14;18)(q32;q21), and t(8;14)(q24.1;q11.2) were found in a 59-year-old man with B-cell chronic lymphocytic leukemia (CLL). While trisomy 12 is one of the most common cytogenetic abnormalities in chronic lymphocytic leukemia, the t(14;18) rearrangement has a strong association with follicular lymphoma and the t(8;14) is associated with T-cell neoplasia. Occurrence of these three abnormalities in CLL are rare, and the significance of this finding is unclear. Further studies of similar cases may shed additional insight into this finding.