نتایج جستجو برای: karyotyping

تعداد نتایج: 1991  

Journal: :Indonesian Journal of Clinical Pathology and Medical Laboratory 2022

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...

Journal: :Frontiers in Genetics 2023

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...

2015
Maryam Etebari Mohsen Navari Pier Paolo Piccaluga

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...

Journal: :Cytogenetics and cell genetics 2000
R Melcher R von Golitschek C Steinlein D Schindler H Neitzel K Kainer M Schmid H Hoehn

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 ...

2013
Stephanie C. Y. Yu Peiyong Jiang Kwong W. Choy Kwan Chee Allen Chan Hye-Sung Won Wing C. Leung Elizabeth T. Lau Mary H. Y. Tang Tak Y. Leung Yuk Ming Dennis Lo Rossa W. K. Chiu

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...

2008
G. J. A. Arkesteijn

Information about subscriptions and ASH membership may be found online at: .

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید