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Published on: February 24, 2011
Myelodysplastic syndrome in a patient with a unique constitutional chromosome abnormality t(2;11) (q31;p13)
Y Hinoda1, H Itoh, T Takahashi
1Department of Internal Medicine (Section 1), Sapporo Medical College, Japan.
Abstract:
We present a case of myelodysplastic syndrome (MDS), which developed into an overt leukemic phase in a 15-year-old female with a rare constitutional abnormality [46,XX,t(2;11) (q31;p13)]. The patient entered complete remission after 3 months of chemotherapy. On chromosome analysis during remission, the t(2;11) (q31;p13) abnormality was detected in all metaphases of both the bone marrow cells and PHA-stimulated peripheral blood lymphocytes. Her father also had the same karyotype. This case seems to be of value as a reference for the study of the significance of constitutional chromosome abnormalities in MDS.
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