Monosomy
Mostrando 1-12 de 130 artigos, teses e dissertações.
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1. Validation of interphase fluorescence in situ hybridization (iFISH) for multiple myeloma using CD138 positive cells
ABSTRACT BACKGROUND: Multiple myeloma is a plasma cell neoplasm with acquired genetic abnormalities of clinical and prognostic importance. Multiple myeloma differs from other hematologic malignancies due to a high fraction of low proliferating malignant plasma cells and the paucity of plasma cells in bone marrow aspiration samples, making cytogenetic analy
Rev. Bras. Hematol. Hemoter.. Publicado em: 2016-06
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2. Monosomy 7 in donor cell-derived leukemia after bone marrow transplantation for severe aplastic anemia: report of a new case and review of the literature
Monosomy 7 arises as a recurrent chromosome aberration in donor cell leukemia after hematopoietic stem cell transplantation. We report a new case of donor cell leukemia with monosomy 7 following HLA-identical allogenic bone marrow transplantation for severe aplastic anemia (SAA). The male patient received a bone marrow graft from his sister, and monosomy 7 w
Genet. Mol. Biol.. Publicado em: 02/10/2012
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3. Karyotypic and fluorescent in-situ hybridization study of the centromere of chromosome 7 in secondary myeloid neoplasms
BACKGROUND: Secondary myeloid neoplasms comprise a group of secondary diseases following exposure to myelotoxic agents or due to congenital diseases. The improvement of anticancer agents and immunosuppressive drugs seem to be associated with an increased incidence of secondary myeloid neoplasms. Karyotyping of bone marrow is essential for diagnosis and progn
Revista Brasileira de Hematologia e Hemoterapia. Publicado em: 2011-12
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4. Research on the mechanisms of subtelomeric rearrangements in monosomy 1p36, extension of the spectrum of phenotypic and behavioral variability, diferential diagnosis and characterization of a critical region for obesity / Pesquisa dos mecanismos de rearranjos cromossômicos subteloméricos na monossomia 1p36, expansão do espectro da variabilidade fenotípica e comportamental, diagnósticos diferenciais e caracterização de uma região crítica para obesidade
Subtelomeric abnormalities are an important cause of mental retardation and birth defects. The mechanisms involved in the formation of subtelomeric rearrangements are now beginning to be elucidated. Breakpoint sequencing analysis of 1p36 rearrangements has revealed prevalence of different nonexclusive recombination-repair mechanisms. Rearrangements of 1p36 a
Publicado em: 2009
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5. Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype
Monosomy 1p36 is the most common subtelomeric microdeletion syndrome with an incidence rate estimated to be 1 in 5000 births. A hypothesis of a similarity between patients with 1p36 deletion and those with Prader-Willi syndrome and the existence of two different phenotypes for 1p36 microdeletion has been suggested. The main objective of the present study was
Brazilian Journal of Medical and Biological Research. Publicado em: 2008-08
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6. Myeloproliferative syndrome of monosomy 7: a brief report
We report the case of a five-month-old black male infant who had recurrent episodes of respiratory infections and also presented anemia and enlargements of the spleen, liver and lymphnodes. Hematological analysis revealed morphological abnormalities with megaloblastic dyserythropoiesis, while fetal hemoglobin assaying showed normal levels. Conventional and m
Genetics and Molecular Biology. Publicado em: 2008
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7. Análise citogenética dos pacientes com suspeita de Síndrome de UIIrich-Turner no estado do Ceará Brasil. / Cytogenetic analysis of patients with suspected UIIrich-Turner syndrome in the state of Ceará - Brazil.
A Síndrome de Ullrich Turner (SUT) é o mais comum distúrbio cromossômico que causa baixa estatura em mulheres. Em 50% dos casos, um cromossomo do par sexual inteiro (cariótipo 45,X) é perdido. Os outros 50% das mulheres possuem um nível de anormalidades cariotípicas incluindo a ausência parcial do segundo cromossomo X e mosaicismos. Não há relaç�
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 13/11/2007
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8. Karyological geographic variation of Oligoryzomys nigripes Olfers, 1818 (Rodentia, Cricetidae) from Brazil
The karyotypes of 85 specimens of Oligoryzomys nigripes (Rodentia, Sigmodontinae) collected in the Cerrado and Atlantic Forest of seven states of Brazil were analyzed. Eighty four specimens presented a karyotype with 2n = 62 and one individual had 2n = 61 due to a monosomy of the X chromosome. High levels of intra- and inter-population karyotypic variability
Genetics and Molecular Biology. Publicado em: 2007
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9. The Terminology of the Molecular Genetics: morphologic and semantic aspects" / A terminologia da Genética Molecular: aspectos morfológicos e semânticos
Taking into consideration that the units of specialized knowledge take part of a dynamic universe, in the scenery of the scientific innovations, and that they are basic for the specialized communication, the present work, in the fields of communicative/linguistic, has as main objective the systematization, organization and structuration of the vocabulary of
Publicado em: 2007
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10. X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome
We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparen
Genetics and Molecular Biology. Publicado em: 2006
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11. Cytogenetic study of Brazilian patients with myelodysplastic syndrome (MDS)
Bone marrow cytogenetic studies were performed on 93 patients with primary myelodysplastic syndrome (MDS) diagnosed at the Clinical Hospital of the Federal University of Paraná, Brazil. Chromosomal alterations were observed in 69% of the patients. Monosomy of chromosome 7, deletions of 7q, 5q, 12p and 20q, rearrangements of 11q23 and trisomies of chromosome
Genetics and Molecular Biology. Publicado em: 2005-12
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12. Classical and molecular cytogenetic analysis in head and neck squamous cell carcinomas
Head and neck carcinomas represent the sixth most frequent type of cancer in the world, and 90% are derived from squamous cells (HNSCC). In this study of 15 HNSCC cases, extensive aneuploidy was detected by G banding in most tumors. The most frequently observed numerical changes involved gain of a chromosome 22, and loss of chromosomes Y, 10, 17, and 19. The
Genetics and Molecular Biology. Publicado em: 2003