Rejoining between 9q+ and Philadelphia chromosomes results in normal-looking chromosomes 9 and 22 in Ph1-negative chronic myelocytic leukemia.
Rearrangement of the breakpoint cluster region (bcr) and the chromosomal location of c-abl and 3'-bcr were studied in two patients with Philadelphia chromosome (Ph1)-negative chronic myelocytic leukemia (CML). One patient (patient 1) had a normal karyotype and the other (patient 2), 46,XY,inv(3)(q21q26). Both patients showed the bcr rearrangement by Southern blot analysis with a 1.2kb 3'-bcr probe. In situ hybridization studies demonstrated the location of the homologous sequences of bcr on chromosome 22 in patient 1, and on chromosomes 9 and 22 in patient 2. These findings indicate that the morphologically normal-looking chromosomes 9 and 22 in patient 2 are the result of a retranslocation between chromosomes 9q+ and 22q-, abnormalities which were first formed by a standard Ph1 translocation.
Department of Hygiene, Kyoto Prefectural University of Medicine, Japan.
J
J
Inazawa
H
H
Nishigaki
H
H
Takahira
J
J
Nishimura
S
S
Horiike
M
M
Taniwaki
S
S
Misawa
T
T
Abe
D000328:Adult; D015139:Blotting, Southern; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics*; D008297:Male; D010677:Philadelphia Chromosome
D005819:Genetic Markers