نتایج جستجو برای: chromosomal sensitivity
تعداد نتایج: 380653 فیلتر نتایج به سال:
Introduction: Lots of human diseases and syndromes result from partial or complete gene deletions and duplications or changes of certain specific chromosomal sequences. Many various methods are used to study the chromosomal aberrations including Comparative Genomic Hybridization (CGH), Fluorescent in Situ Hybridization (FISH), Southern blots, Multiplex Amplifiable Probe Hybridisation (MAP...
Ataxia Telangiectasia is a rare autosomal recessive disease characterized by progressive neurological dysfunction, immunodeficiency, telangiectasia, chromosomal problems, and sensitivity to radiation, infection, susceptibility cancer. A 5-year-old girl with applied our rehabilitation center due balance coordination problems. Step length, double step width cadence were calculated in the patient ...
BACKGROUND Chromosomal abnormalities, such as t(9;22)(q34;q11) (ABL/BCR), t(12;21)(p13;q22) (TEL/AML1), and t(11q23) (MLL) are independent prognostic indicators in childhood acute lymphoblastic leukemia resulting in risk adapted therapy. Accurate and rapid detection of these abnormalities is mandatory, which is achieved by karyotyping, fluorescence in situ hybridization, and real time quantitat...
background: different studies show that chromosomal balance translocation in the parents can cause recurrent spontaneous abortions. incidence of chromosomal translocation abnormalities in couples with repeated abortions is from 0% to 31%. objective: the purpose of this research was studying the presence or absence of chromosomal abnormalities and heteromorphism in couples with recurrent abortio...
BACKGROUND The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification (MLPA) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. OBJECTIVE To evaluate the sensitivi...
OBJECTIVES To assess the clinical utility of fluorescence in-situ hybridisation with chromosomes 13, 18, 21, X and Y as a stand-alone test in detecting chromosomal abnormalities, and the types of chromosomal abnormalities missed. DESIGN Retrospective analysis. SETTING A restructured Government hospital in Singapore and an academic hospital in the United States. PARTICIPANTS Cytogenetic da...
BACKGROUND The World Health Organization (WHO) classification system defines recurrent chromosomal translocations as the sole diagnostic and prognostic criteria for acute leukemia (AL). These fusion transcripts are pivotal in the pathogenesis of AL. Clinical laboratories universally employ conventional karyotype/FISH to detect these chromosomal translocations, which is complex, labour intensive...
introduction: most of the hematologic malignancies are heterogenous with regard to morphology, immunophenotype, and genetic rearrangements. multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which is now widely recognized as one of the most important diagnostic and prognostic determinants in these patients. patients and methods: bone marrow sam...
spontaneous abortion (sab) is the most common complication of early pregnancy. numerous risk factors are associated with an increased risk of pregnancy loss such as: blighted ovum. the aim of this study was to determine the frequency of balanced chromosomal translocations in couples with a history of recurrent spontaneous abortions and ultrasound diagnosed blighted ovum. sixty eight couples wit...
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