نتایج جستجو برای: conventional cytogenetics
تعداد نتایج: 267820 فیلتر نتایج به سال:
Most patients with acute lymphocytic leukemia (all) are reported to have acquired chromosomal abnormalities in their leukemic bone marrow cells. Many established chromosome rearrangements have been described, and their associations with specific clinical, biologic, and prognostic features are well defined. However, approximately 30% of pediatric and 50% of adult patients with all do not have cy...
Although presently known as an environmentally-related disease and appears mostly sporadic, cancer is regarded as a genetic disease based on the presence of gene mutation as a consistent factor. The "Philadelphia Chromosome" found consistently among chronic myeloid leukemia (CML) patients was the first significant finding of a chromosomal abnormality specifically related to a particular disease...
Although presently known as an environmentally-related disease and appears mostly sporadic, cancer is regarded as a genetic disease based on the presence of genetic mutation as a consistent factor. The “Philadelphia Chromosome” found consistently among chronic myeloid leukemia (CML) patients was the first significant finding of a chromosomal abnormality specifically related to a particular dise...
Chromosomal microarray technology represents the technical convergence of molecular genetics and cytogenetics, and is rapidly revolutionizing modern cytogenetics. Expected genomic aberrations are accurately identified and provide readily interpretable results that are suitable for clinical risk stratification and therapeutic strategies. The applic...
Chronic Myeloid Leukemia (CML) is a hematopoietic malignancy characterized by the presence ofPhiladelphia (Ph1) chromosome that results from balanced reciprocal translocation between chromosomes9 and 22 leading in the formation of bcr/abl fusion gene. The present study was conducted to evaluate cytogenetic and molecular abnormalities in CML patients at presentation and during the co...
Conventional cytogenetics can categorize patients with acute myeloid leukemia (AML) into favorable, intermediate, and unfavorable-risk groups; however, patients with intermediate-risk cytogenetics represent the major population with variable outcomes. Because molecular profiling can assist with AML prognosis and next-generation sequencing allows simultaneous sequencing of many target genes, we ...
Chronic lymphocytic leukemia (CLL) has consistent 13q chromosomal abnormalities detected by conventional cytogenetics. Using interphase cytogenetics we show deletion of a l-megabase 13q12.3 locus, encompassing the 6RCAZ gene, in 80% of 35 CLL cases studied. Homozygous deletion of 6RCA.2, located within the minimal deletion consensus, was detected in a significant population of cells in 60% of ...
Chromosomes forming a corresponding ring cannot be clearly defined by conventional cytogenetics or FISH. Karyotypic analyses using whole-genome single nucleotide polymorphism arrays (SNP-A) may result in the identification of previously cryptic lesions and allow for more precise definition of breakpoints. We describe a case of AML with metaphase cells bearing -5, del(11)(q22), and +r. With SNP-...
Chromosome analysis is an essential part of the diagnostic testing of myeloid malignancies. Good chromosome preparations are essential for a complete cytogenetic analysis. This means plentiful metaphase spreads with well-spread crisply banded chromosomes. To achieve such a result, several variables, including the growth rate of the leukemic cells, are critical. The method described in this chap...
Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS).
We report on a newborn white male infant with marked dysmorphic features and various congenital malformations. The initial clinical evaluation showed Crouzon-like features as well as some features of trisomy 18 syndrome and trisomy 13 syndrome. The results from conventional cytogenetic analysis showed a structurally abnormal chromosome replacing one normal chromosome 18, but only by applying mo...
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