title: Breakpoint characterization of der(9) deletions in chronic myeloid leukemia patients.
abstract: Deletions adjacent to the 9/22 translocation breakpoint on the derivative chromosome 9 have recently been described in a substantial number of chronic myeloid leukemia (CML) cases, but their extension has not been characterized in detail. Using FISH with an appropriate set of BAC/PAC probes, we have characterized the deletion in 10 CML cases, identified by screening 71 patients at diagnosis. Five patients showed a complex chromosome rearrangement and 3 of them were deleted. The size of the deletion was variable, ranging from few hundreds kb to 8 Mb. A minimally deleted region on both chromosomes 9 and 22 was identified and was found to contain the ASS gene on chromosome 9 and IGLL1 on chromosome 22.
mesh_terms: D001124:Argininosuccinate Synthase / Q000235:genetics; D001854:Bone Marrow Cells / Q000473:pathology; D019457:Chromosome Breakage / Q000235:genetics*; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D027042:Chromosomes, Artificial, P1 Bacteriophage / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D015342:DNA Probes / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D016898:Interferon-alpha / Q000627:therapeutic use; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D012074:Remission Induction / Q000379:methods; D014178:Translocation, Genetic / Q000235:genetics; D014407:Tumor Cells, Cultured
chemical_list: D015342:DNA Probes; D004273:DNA, Neoplasm; D005819:Genetic Markers; D016898:Interferon-alpha; D016044:Fusion Proteins, bcr-abl; D001124:Argininosuccinate Synthase