نتایج جستجو برای: cytogenetic analysis

تعداد نتایج: 2831446  

Journal: :Blood 1993
C S Chen P H Sorensen P H Domer G H Reaman S J Korsmeyer N A Heerema G D Hammond J H Kersey

Acute lymphoblastic leukemia (ALL) in infants generally shows distinctive biologic features and has a poor prognosis. Cytogenetic studies indicate that many infant leukemias have chromosome 11q23 translocations. Because of these findings and the distinct clinical features of infant leukemia, we investigated 30 cases of infant ALL for molecular defects of 11q23. Fourteen cases had cytogenetic ab...

Journal: :iranian journal of medical sciences 0
akbar safaei department of pathology, school of medicine, shiraz university of medical sciences, shiraz, iran mansoureh shokripour department of pathology, school of medicine, shiraz university of medical sciences, shiraz, iran navid omidifar department of pathology, school of medicine, shiraz university of medical sciences, shiraz, iran

background: pancytopenia is a manifestation of a wide range of disorders. the main prognostic factor for predicting outcome and response to treatment is based on the underlying cause. to detect the root cause of this problem, depending on other accompanied signs or symptoms, the need for bone marrow examination and other advanced work ups is different at least at the practical level. this study...

Journal: :American journal of medical genetics. Part A 2009
Laura J C M Van Zutven Yolande van Bever Carolien C M Van Nieuwland Gido C M Huijbregts Diane Van Opstal Anne R M von Bergh Linda J A Corel Dick Tibboel Cokkie H Wouters Pino J Poddighe

We present a family with multiple cytogenetic abnormalities, identified through a girl with several dysmorphic features and cardiac problems, suspected for Jacobsen syndrome. Cytogenetic analysis showed a 46,XX,del(11)(qter) karyotype, which was confirmed by fluorescence in situ hybridization (FISH). Cytogenetic investigation of the parents showed a chromosome aberration in both: the father had...

2017
Katarzyna Kluzek Malgorzata I. Srebniak Weronika Majer Agnieszka Ida Tomasz Milecki Kinga Huminska Robert M. van der Helm Adrian Silesian Tomasz M. Wrzesinski Jacek Wojciechowicz Berna H. Beverloo Zbigniew Kwias Hans A.R. Bluyssen Joanna Wesoly

BACKGROUND Mutation analysis and cytogenetic testing in clear cell renal cell carcinoma (ccRCC) is not yet implemented in a routine diagnostics of ccRCC. MATERIAL AND METHODS We characterized the chromosomal alterations in 83 ccRCC tumors from Polish patients using whole genome SNP genotyping assay. Moreover, the utility of next generation sequencing of cell free DNA (cfDNA) in patients plasm...

Journal: :iranian journal of pathology 2010
hossein ayatollahi akbar safaei mohammad vasei

background and objectives: primary amenorrhea is not a disease but a symptom that may result from several quite different causes[nn1] . common hormonal cause of primary amenorrhea includes constitutional delay, hypothalamic –pituitary dysfunction, chronic systemic disease and absent ovarian function. the aim of this study was to estimate the incidence of the chromosomal abnormality referred for...

Background & Objective: Cytogenetic abnormalities in Multiple myeloma (MM) has emerged as the most important factor that determine the prognosis and survival. Fluorescence in situ hybridization (FISH) can detect a greater number of cytogenetic abnormalities as compared to conventional karyotyping and hence has become the standard test in determining genetic abnormalities in MM....

Journal: :journal of cell and molecular research 0
massoud ranjbar maryam almasi elnaz hosseini

chromosome number, meiotic behavior, and pollen viability were analyzed in 2 species of genus solenanthus, s. stamineus (desf.) wettst. and s. circinnatus ledeb, from iran. this report is the first cytogenetic analysis of these species. all taxa are diploid and possess 2n = 2x = 24 chromosome number, consistent with the proposed base number of x = 12. although this taxon displayed regular bival...

2014
Enkhtsetseg Purev Bogdan Dumitriu Christopher S. Hourigan Neal S. Young Danielle M. Townsley

We report a case of t(8;21) acute myeloid leukemia presenting as severe aplastic anemia. While initial bone marrow biopsy lacked any cytogenetic abnormalities in 20 analyzed metaphases, repeat bone marrow biopsy eight days later demonstrated this translocation. Initial cytogenetic analysis of 20 metaphases was therefore insufficient to make the diagnosis of hypocellular acute myeloid leukemia. ...

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