Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).

A 22 year old woman with partial trisomy for the long arm of chromosome 2 is described. The karyotype is 46,XX, dir dup(2)(q33.1q35) de novo confirmed by FISH using a chromosome 2 specific paint.

Bloom syndrome and maternal uniparental disomy for chromosome 15.

Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syndrome (PWS).

A complex chromosome rearrangement forms the BCR-ABL fusion gene in leukemic cells with a normal karyotype.

Chromosome in situ hybridization studies showed that the normal karyotype of leukemic cells from a patient with Ph1-negative, BCR-positive chronic myeloid leukemia (CML) concealed a complex t(9;22;20)(q34;q11;p13). The close association of 5'-BCR and 3'-ABL was demonstrated by field inversion gel electrophoresis, and in situ hybridization showed that BCR-ABL was located on the short arm of chromosome 20. Our findings further indicate that chromosome rearrangement is the cause of BCR-ABL gene fusion in leukemic cells that show a normal karyotype.

t(2;14)(q23;q32.3) as the sole abnormality in a patient with acute nonlymphocytic leukemia (FAB-M4).

Cytogenetic analysis of bone marrow cells from a 53-year-old man with acute nonlymphocytic leukemia (FAB-M4) revealed a t(2;14)(q23;q32.3) as the sole cytogenetic abnormality. This is the first report of a t(2;14)(q23;q32.