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Catalog of chromosome aberrations in cancer
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TLDR
This poster presents a probabilistic procedure to count the number of chromosomes in the nucleus using a simple “spatially aggregating” procedure called “spot-spot analysis”.Abstract:
Chromosome 1-22 Chromosome X Chromosome Y Homogeneously Staining Regions (HSR) Ring Chromosomes (R) Double Minute Chromosomes (DMIN).read more
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Rearrangement of band 10q22 in leiomyoma and leimyosarcoma of the uterus
TL;DR: Analysis of a uterine leiomyoma from a 56-year-old woman revealed an interstitial deletion of chromosome 10, del(10)(q22q24), as the only chromosomal abnormality, providing an additional example in soft tissue tumors for involvement of the same chromosomal regions in benign and malignant proliferation of cells from the same lineage.
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Structural chromosome aberrations in a case of angioleiomyoma
Sverre Heim,Nils Mandahl,Ulf Kristoffersson,Felix Mitelman,Bo Rööser,Anders Rydholm,Helena Willén +6 more
TL;DR: Chromosome analysis of cells from an angioleiomyoma revealed the karyotype 46,XX,del(6)(p21p23),del(21)(q21)/46,XX; the possible importance of these structural derangements is discussed within the framework of current knowledge on chromosome aberrations in benign neoplasms.
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Genetic analysis of p53 and RB1 tumor-suppressor genes in blast crisis of chronic myeloid leukemia.
Gianluca Gaidano,Anna Serra,Angelo Guerrasio,Giovanna Rege-Cambrin,Umberto Mazza,Giuseppe Saglio +5 more
TL;DR: P53 mutations were restricted to one case of myeloid blast crisis, showing a CGC→TGC (Arg→Cys) mutation at codon 283; two additional cases displayed LOH at 17p13 in the absence of p53 mutations, indicating that inactivation of p 53 and RB1 is a rare event in the molecular pathogenesis of CML acute transformation.
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Absence of isochromosome 12p in a pineal region malignant germ cell tumor
TL;DR: The first cytogenetic investigation of a rare pineal region mixed germ cell tumor was reported, and the Y chromosome was lost, and three copies of the X chromosome were present.
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Molecular features of primary MDS with cytogenetic changes.
TL;DR: Integration of fluorescence in situ hybridization at DNA level and of immunophenotyping at cellular level is an elegant tool to investigate clonal affiliation in MDS with distinct genetic changes.