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