نتایج جستجو برای: karyotyping
تعداد نتایج: 1991 فیلتر نتایج به سال:
Hemophagocytic Lymphohistiocytosis (HLH) is a condition of immune dysregulation characterized by severe organ damage induced hyperinflammatory response and uncontrolled T-cell macrophage activation. Patients with Acute Myeloblastic Leukemia (AML) may be prone to develop HLH. lymphohistiocytosis syndrome in AMLpatients an abnormal complex karyotyping can worsen the patients' prognosis outcome. A...
Background: Chromosomal abnormalities are a major cause of early pregnancy loss. However, models synthesizing existing genetic technologies to improve outcomes lacking. We aim provide an integrated laboratory algorithm for the etiology couples who experienced Methods: Over 6-year period, 3,634 products conception (POCs) following loss were collected. The clinical from based on single nucleotide...
The traditional methods for detection of chromosomal aberrations, which included cytogenetic or gene candidate solutions, suffered from low sensitivity or the need for previous knowledge of the target regions of the genome. With the advent of single nucleotide polymorphism (SNP) arrays, genome screening at global level in order to find chromosomal aberrations like copy number variants, DNA ampl...
Fibroblast cultures from two Werner syndrome patients were analyzed by spectral karyotyping. There were multiple, pseudodiploid clones in both cultures, mostly marked by random balanced reciprocal translocations. One of the cultures contained a clone with three-way exchanges involving chromosomes 2, 3, and 16. Duplication-deficiencies were exceptional, as were completely normal metaphases. The ...
Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either...
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