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Missing Y chromosome in Ph1-negative chronic myeloid leukemia with bcr rearrangement. Evidence for a bcr-abl recombination on chromosome 22 by in situ hybridization. 1991

N Uike, and J Inazawa, and H Nishigaki, and H Takahira, and M Katsuno, and M Hashimoto, and M Kozuru
Department of Hematology, National Kyushu Cancer Center Hospital, Fukuoka, Japan.

In a case of Philadelphia chromosome (Ph1)-negative chronic myeloid leukemia (CML) without the Y chromosome, we investigated the differences, at the molecular level, from Ph1-positive CML. Using Southern blot analysis and in situ hybridization studies, we could demonstrate a rearrangement within the breakpoint cluster region (bcr), and the location of a bcr-abl fusion gene on chromosome 22. To our knowledge, this is the first case of Ph1-negative CML with a loss of the Y chromosome in which the molecular abnormalities are shown to be identical with those in Ph1-positive CML.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009693 Nucleic Acid Hybridization Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503) Genomic Hybridization,Acid Hybridization, Nucleic,Acid Hybridizations, Nucleic,Genomic Hybridizations,Hybridization, Genomic,Hybridization, Nucleic Acid,Hybridizations, Genomic,Hybridizations, Nucleic Acid,Nucleic Acid Hybridizations
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014998 Y Chromosome The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained. Chromosome, Y,Chromosomes, Y,Y Chromosomes
D015321 Gene Rearrangement The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development. DNA Rearrangement,DNA Rearrangements,Gene Rearrangements,Rearrangement, DNA,Rearrangement, Gene,Rearrangements, DNA,Rearrangements, Gene
D016044 Fusion Proteins, bcr-abl Translation products of a fusion gene derived from CHROMOSOMAL TRANSLOCATION of C-ABL GENES to the genetic locus of the breakpoint cluster region gene on chromosome 22. Several different variants of the bcr-abl fusion proteins occur depending upon the precise location of the chromosomal breakpoint. These variants can be associated with distinct subtypes of leukemias such as PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE; and NEUTROPHILIC LEUKEMIA, CHRONIC. Oncogene Protein p190(bcr-abl),Oncogene Protein p210(bcr-abl),bcr-abl Fusion Protein,bcr-abl Fusion Proteins,Bcr-Abl Tyrosine Kinase,Oncogene Protein p185(bcr-abl),Oncogene Protein p230(bcr-abl),p185(bcr-abl) Fusion Proteins,p190(bcr-abl) Fusion Proteins,p210(bcr-abl) Fusion Proteins,p230(bcr-abl) Fusion Proteins,Bcr Abl Tyrosine Kinase,Fusion Protein, bcr-abl,Fusion Proteins, bcr abl,Kinase, Bcr-Abl Tyrosine,Protein, bcr-abl Fusion,Tyrosine Kinase, Bcr-Abl,bcr abl Fusion Protein,bcr abl Fusion Proteins
D054438 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative A myelodysplastic/myeloproliferative disorder characterized by myelodysplasia associated with bone marrow and peripheral blood patterns similar to CHRONIC MYELOID LEUKEMIA, but cytogenetically lacking a PHILADELPHIA CHROMOSOME or bcr/abl fusion gene (GENES, ABL). Atypical Chronic Myeloid Leukemia,Chronic Myeloid Leukemia, Atypical,Leukemia, Myeloid, Philadelphia-Negative,Myeloid Leukemia, Philadelphia-Negative,Leukemia, Myelogenous, Ph1 Negative,Leukemia, Myelogenous, Ph1-Negative,Leukemia, Myeloid, Chronic, Atypical,Leukemia, Myeloid, Ph1 Negative,Leukemia, Myeloid, Ph1-Negative,Leukemia, Myeloid, Philadelphia Negative,Myelogenous Leukemia, Ph1-Negative,Myeloid Leukemia, Ph1-Negative,Leukemia, Ph1-Negative Myelogenous,Leukemia, Ph1-Negative Myeloid,Leukemia, Philadelphia-Negative Myeloid,Leukemias, Ph1-Negative Myelogenous,Leukemias, Ph1-Negative Myeloid,Leukemias, Philadelphia-Negative Myeloid,Myelogenous Leukemia, Ph1 Negative,Myelogenous Leukemias, Ph1-Negative,Myeloid Leukemia, Ph1 Negative,Myeloid Leukemia, Philadelphia Negative,Myeloid Leukemias, Ph1-Negative,Myeloid Leukemias, Philadelphia-Negative,Ph1-Negative Myelogenous Leukemia,Ph1-Negative Myelogenous Leukemias,Ph1-Negative Myeloid Leukemia,Ph1-Negative Myeloid Leukemias,Philadelphia-Negative Myeloid Leukemia,Philadelphia-Negative Myeloid Leukemias
D025063 Chromosome Disorders Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) Autosomal Chromosome Disorders,Chromosome Abnormality Disorders,Chromosomal Disorders,Autosomal Chromosome Disorder,Chromosomal Disorder,Chromosome Abnormality Disorder,Chromosome Disorder,Chromosome Disorder, Autosomal,Chromosome Disorders, Autosomal,Disorder, Chromosomal,Disorder, Chromosome,Disorder, Chromosome Abnormality,Disorders, Chromosomal,Disorders, Chromosome

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