A brief look at the origin of tetraploidy

Rosenbusch, B.; Schneider, Michael

doi:10.1159/000079583

Cited by 6 publications

(3 citation statements)

References 29 publications

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“…28 This has long been deduced on the basis of chromosomal complement (92,XXXX or 92,XXYY), and more recently confirmed by molecular studies. 29 …”

Section: Spectrum Of Chromosomal Abnormalitiesmentioning

confidence: 82%

Causes of Fetal Wastage

Simpson¹

2007

Clinical Obstetrics and Gynecology

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Fetal wastage has many causes, but genetic factors are by far the most common. The earlier the pregnancy loss occurs, the greater the likelihood of genetic causation. Among first trimester abortions, 50% to 80% show chromosomal abnormalities, usually aneuploidy. This is greater than all other causes combined. Chromosomal numerical abnormalities can be recurrent and sporadic; failure to take this into account is a major pitfall in many reports addressing causation. Moreover, many causes of fetal wastage that are traditionally considered to be "nongenetic" are actually the result of perturbations of gene products-proteins. Among nongenetic causes of first trimester fetal wastage, the best established are thyroid abnormities; antifetal antibodies; and the inherited and acquired thrombophilias. The latter are more established in the second trimester. Uterine anomalies can lead to second trimester losses. Infections seem uncommon, and alloimmune causes are not validated.

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“…28 This has long been deduced on the basis of chromosomal complement (92,XXXX or 92,XXYY), and more recently confirmed by molecular studies. 29 …”

Section: Spectrum Of Chromosomal Abnormalitiesmentioning

confidence: 82%

Causes of Fetal Wastage

Simpson¹

2007

Clinical Obstetrics and Gynecology

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“…Tetraploidy occurs more commonly as a cultural artifact of amniotic cells (Kohn et al, 1967), but results of several studies draw attention to the fact that tetraploidy is an existent and relatively common abnormality (Kohn et al, 1967;Atkin and Baker, 1984). Tetraploidy may arise when there is a failure of cytokinesis after the first mitotic division of the zygote in 95% of the cases resulting in complete tetraploidy in the first cleavage division followed by mosaicism at a later stage (Veenema et al, 1982;Rosenbusch and Schneider, 2004). Another mechanism proposed is trispermy, which may account for 5% of the mixoploid cases.…”

Section: Discussionmentioning

confidence: 99%

Rare finding of 2n/4n mixoploidy in mother and fetus with severe immune hydrops

Sharma

Paliwal²,

Dadhwal³

et al. 2009

Cytogenet Genome Res

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The findings of diploid-tetraploid mosaicism in cultured amniotic fluid cells is considered a culture artifact. On rare occasions its presence indicates a chromosomally abnormal fetus with multiple congenital defects. We present here a patient who in her previous pregnancies had delivered one hydrops and two macerated fetuses. The reported pregnancy also resulted in a fetus with severe hydrops. Cytogenetic analysis of cultured amniotic fluid cells revealed diploid-tetraploid mosaicism in the fetus also confirmed in fetal cord blood and skin fibroblasts. Chromosomal analysis of the parents revealed mixoploidy in the mother. These findings are extremely important for prenatal diagnosis and prompt us to not uniformly dismiss tetraploidy as artifactual but to confirm it especially in cases with ultrasound abnormalities.

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“…Since polyploidy severely affects organismal homeostasis in humans, gains of additional chromosomal sets are generally accepted to be incompatible with life [40,140,141]. Mosaic or regular polyploidy is a frequent cytogenetic finding in spontaneous abortions [28,29,30,142].…”

Section: Mosaic Chromosome Abnormalitiesmentioning

confidence: 99%

Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism

Iourov

Vorsanova

Yurov

et al. 2019

Genes

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Intercellular karyotypic variability has been a focus of genetic research for more than 50 years. It has been repeatedly shown that chromosome heterogeneity manifesting as chromosomal mosaicism is associated with a variety of human diseases. Due to the ability of changing dynamically throughout the ontogeny, chromosomal mosaicism may mediate genome/chromosome instability and intercellular diversity in health and disease in a bottleneck fashion. However, the ubiquity of negligibly small populations of cells with abnormal karyotypes results in difficulties of the interpretation and detection, which may be nonetheless solved by post-genomic cytogenomic technologies. In the post-genomic era, it has become possible to uncover molecular and cellular pathways to genome/chromosome instability (chromosomal mosaicism or heterogeneity) using advanced whole-genome scanning technologies and bioinformatic tools. Furthermore, the opportunities to determine the effect of chromosomal abnormalities on the cellular phenotype seem to be useful for uncovering the intrinsic consequences of chromosomal mosaicism. Accordingly, a post-genomic review of chromosomal mosaicism in the ontogenetic and pathogenetic contexts appears to be required. Here, we review chromosomal mosaicism in its widest sense and discuss further directions of cyto(post)genomic research dedicated to chromosomal heterogeneity.

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A brief look at the origin of tetraploidy

Cited by 6 publications

References 29 publications

Causes of Fetal Wastage

Causes of Fetal Wastage

Rare finding of 2n/4n mixoploidy in mother and fetus with severe immune hydrops

Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism

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