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The terms 'haploid' and 'diploid' that describe single (n) and double (2n) chromosome sets in cells were coined by the Polish-German botanist Eduard Strasburger and originate from the Greek terms haplóos meaning 'single' and diplóos meaning 'double'.
Orr, Bernardo +2 more
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Aneuploidy refers to karyotypic abnormalities characterized by gain or loss of individual chromosomes. This condition is associated with disease and death in all organisms in which it has been studied. We have characterized the effects of aneuploidy on yeast and primary mouse cells and found it to be detrimental at the cellular level.
Torres Mejia, Elen Raquel Sarabasti +3 more
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Aneuploidy and tumorigenesis [PDF]
Aneuploidy is a prominent phenotype of cancer. It refers to deviations from the normal number of chromosomes in a cell, as a result of whole-chromosome loss or gain. In most cases, aneuploidy is caused by mitotic errors due to defects in the mechanisms that have evolved to ensure faithful chromosome segregation, such as the spindle assembly checkpoint (
Xiao, Fang, Pumin, Zhang
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L’information et le consentement de la femme au dépistage prénatal non invasif
Aneuploidy screening has evolved significantly over the last two. Non-invasive prenatal testing (NIPT) is a revolutionary tool in the screening strategy for trisomy 21 owing to its high performance.
Alexandra Benachi, Alexandre J. Vivanti
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Screening for aneuploidies by maternal age, fetal nuchal translucency and maternal serum biochemistry at 11-13+6 gestational weeks [PDF]
Introduction. Aneuploidies are the major cause of perinatal death and early psychophysical disorders. Objective. In this study, we analyzed detection and false-positive rates of screening for aneuploidies in the first trimester by the combination of ...
Karadžov-Orlić Nataša +15 more
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Mechanisms of aneuploidy [PDF]
Accurate chromosome segregation during cell division is essential for genome integrity. Errors in chromosome segregation are irreversible and lead to a state of aneuploidy where the number of chromosomes in a cell or organism is not a multiple of the haploid number of chromosomes.
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Background Low-pass genome sequencing (LP GS) has shown distinct advantages over traditional methods for the detection of mosaicism. However, no study has systematically evaluated the accuracy of LP GS in the detection of mosaic aneuploidies and copy ...
Yanqiu Liu +13 more
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Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos
Background The high incidence of aneuploidy in early human development, arising either from errors in meiosis or postzygotic mitosis, is the primary cause of pregnancy loss, miscarriage, and stillbirth following natural conception as well as in vitro ...
Rajiv C. McCoy +5 more
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Investigational Management for a Positive NIPT Result - Case Report [PDF]
Non-invasive prenatal testing (NIPT), since its introduction in 2011, has revolutionized prenatal screening, becoming widely used globally and replacing traditional screening methods in developed countries.
Elena Evelina STOICA +3 more
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Objective: To investigate if next-generation sequencing-based preimplantation genetic testing for aneuploidies could improve pregnancy outcomes in women of advanced maternal age. Materials and methods: A retrospective analysis.
Yizhuo Yang +6 more
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