Myelodysplastic syndrome in a patient with a unique constitutional chromosome abnormality t(2;11) (q31;p13).
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.
Hinoda
Y
Y
Department of Internal Medicine (Section 1), Sapporo Medical College, Japan.
Itoh
H
H
Takahashi
T
T
Adachi
M
M
Tsujisaki
M
M
Imai
K
K
Yachi
A
A
D000293:Adolescent; D002880:Chromosomes, Human, Pair 11; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D014178:Translocation, Genetic