Search results for "cytogenetic"
showing 10 items of 159 documents
SNPs array karyotyping reveals a novel recurrent 20p13 amplification in primary myelofibrosis.
2011
The molecular pathogenesis of primary mielofibrosis (PMF) is still largely unknown. Recently, single-nucleotide polymorphism arrays (SNP-A) allowed for genome-wide profiling of copy-number alterations and acquired uniparental disomy (aUPD) at high-resolution. In this study we analyzed 20 PMF patients using the Genome-Wide Human SNP Array 6.0 in order to identify novel recurrent genomic abnormalities. We observed a complex karyotype in all cases, detecting all the previously reported lesions (del(5q), del(20q), del(13q), +8, aUPD at 9p24 and abnormalities on chromosome 1). In addition, we identified several novel cryptic lesions. In particular, we found a recurrent alteration involving cytob…
Value of nude mice xenografts in the expression of cell heterogeneity of human sarcomas of bone and soft tissue.
1988
Summary Nude mice xenotransplants have been performed on human primary sarcomas of bone and soft tissues in order to delve into the cell heterogeneity of these neoplasms. Particular emphasis has been given to the group of small round blue cell sarcomas (Ewing's sarcomas and peripheral neuroectodermal tumors). Out of 31 xenotransplanted sarcomas, 16 cases have grown positively, and many of them continue to be transferred into nude mice on a regular time basis, being presently considered as fully established nude lines. Here we report the results of such a system, which has been followed with optical, electron microscopical, immunohistochemical and cytogenetic techniques. Osteosarcomas make u…
Cytogenetic study of a spindle-cell rhabdomyosarcoma of the parotid gland.
1999
The cytogenetic analysis of a spindle-cell rhabdomyosarcoma of the parotid gland in a 6-year-old boy is reported. The tumor cells showed an abnormal karyotype with a hypotriploid modal chromosome number and clonal structural rearrangements affecting chromosomes 1, 8, 12, 21, and 22. The tumor karyotype was: 59, XY, -1, -3, -4, -5, -6, +8, +8, +del(8)(q22q24), -9, -10, del(12)(q13), -15, -16, -17, -18, der(21)t(12;21)(p11;p11), -22, der(22)t(1;22)(q12;p11).
Sperm DNA fragmentation levels in testicular sperm samples from azoospermic males as assessed by the sperm chromatin dispersion (SCD) test.
2009
Objective To analyze sperm DNA fragmentation (SDF) in testicular sperm samples from patients with azoospermia either from spermatogenic failure or from duct obstruction. Several technologies can be applied in the evaluation of SDF, but given the ease and low costs, the sperm chromatin dispersion test (SCD) has emerged as a promising standard. Design Prospective blind observational cohort study. Setting University-affiliated private IVF setting. Patient(s) Azoospermic patients from couples undergoing intracytoplasmic sperm injection cycles. Intervention(s) Testicular sperm extraction (TESE). Main Outcome Measurement(s) We determined testicular SDF, and a basic comparison between nonobstructi…
Genetic Instability and Intratumoral Heterogeneity in Neuroblastoma with MYCN Amplification Plus 11q Deletion
2013
Background/Aim Genetic analysis in neuroblastoma has identified the profound influence of MYCN amplification and 11q deletion in patients’ prognosis. These two features of high-risk neuroblastoma usually occur as mutually exclusive genetic markers, although in rare cases both are present in the same tumor. The purpose of this study was to characterize the genetic profile of these uncommon neuroblastomas harboring both these high-risk features. Methods We selected 18 neuroblastomas with MNA plus 11q loss detected by FISH. Chromosomal aberrations were analyzed using Multiplex Ligation-dependent Probe Amplification and Single Nucleotide Polymorphism array techniques. Results and Conclusion Thi…
Chromosomal rearrangements in childhood acute myeloid leukemia and myelodysplastic syndromes.
1999
Recurrent chromosomal abnormalities present in the malignant cells of children with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) often correlate closely with specific clinical and biologic characteristics of the disease. Certain unique cytogenetic rearrangements are associated with distinct morphologic leukemic subtypes. These rearrangements should be detectable in most children with AML and MDS with the use of complementary molecular techniques such as fluorescence in situ hybridization (FISH), Southern blotting, and polymerase chain reaction. Apart from the diagnostic assessment, cytogenetic findings sometimes predict clinical outcome and thus also serve as prognostic …
Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections
2005
A boy with developmental delay, particularly of speech, a distinct face, antineutrophil cytoplasmic antibodies, and recurrent infections was found to have an apparently balanced de novo t(1;6)(q32.3;q22.3) translocation. Fluorescent in situ hybridisation with BAC/PAC clones and long range polymerase chain reaction products assessed in the human genome sequence localised the chromosome 1 breakpoint to a 9.8 kb segment within a hypothetical gene, LOC388735, and the chromosome 6 breakpoint to a 12.8 kb segment in intron 4 of the T-cell lymphoma breakpoint-associated target 1 (TCBA1) gene. Disruption and/or formation of TCBA1 fusion genes in T cell lymphoma and leukaemia cell lines suggests a r…
"KARYOTYPE, BANDING AND rDNA FISH IN THE SCARAB BEETLE ANOPLOTRUPES STERCOROSUS (COLEOPTERA SCARABAEOIDEA: GEOTRUPIDAE). DESCRIPTION AND COMPARATIVE …
2004
Six specimens of Anoplotrupes stercorosus (Coleoptera Scarabaeoidea: Geotrupidae) were analysed using conventional staining, banding techniques and fluorescent in situ hybridization with a ribosomal probe (rDNA FISH). Detailed karyotype description was also joined to a comparative analysis between present data and those previously reported for Thorectes intermedius [Chromosome Res. 7 (1999) 1]. The two species, both belonging to the tribe Geotrupini, show the same modal number but different autosomal morphology which is in contrast with the high chromosome stability argued for Geotrupinae during the last three decades. Moreover, a detailed comparison reveals the occurrence of a plesiomorphi…
Chromosomal polymorphism and patterns of viability in natural populations of Drosophila melanogaster from cellar and vineyard.
1991
Two neighbouring natural populations of Drosophila melanogaster have been analysed, one from a cellar habitat and the other from a vineyard outside. An extensive study of inversion polymorphism in the two populations has been carried out. Furthermore, the relationship between inversion polymorphism and the viability of the second chromosome has been studied. The data regarding the total frequency of inversion-carrying chromosomes indicate a lower frequency in the cellar population than in the vineyard population. Some possibilities that could explain the behaviour of the chromosomes from the cellar in relation to the peculiar environment of this habitat are discussed. New endemic inversions…
Histologically benign metastatic meningioma: morphological and cytogenetic study. Case report.
2003
✓ The authors report on a 75-year-old man with histologically benign fibroblastic meningioma metastasizing to the lung, liver, spleen, and kidney. The original tumor exhibited a complex karyotype involving different structural and numerical anomalies associated with monosomy of chromosome 22. The implication of chromosome 1p36 was confirmed by fluorescence in situ hybridization in most interphase nuclei. Metastases occurred 4 months after incomplete resection with prior therapeutic embolization. The recurrent tumor in turn displayed anaplastic features and an increased Ki-67 labeling index. Genetic alterations in such morphologically benign meningiomas have been implicated in the malignant …