ArticleAmerican journal of human genetics2001
The origin of abnormalities in recurrent aneuploidy/polyploidy.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 135 citations in OpenAlex.
- Assessing concordance of genetic parameters between trophectoderm and inner cell mass in morphologically scored day-5 embryos via NGS.Reproduction & fertility · 2026Article
- Incidence of miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY.Frontiers in endocrinology · 2025Article
- Article
- Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials.Balkan journal of medical genetics : BJMG · 2023Article
- A Novel System for the Detection of Spontaneous Abortion-Causing Aneuploidy and Its Erroneous Chromosome Origins through the Combination of Low-Pass Copy Number Variation Sequencing and NGS-Based STR Tests.Journal of clinical medicine · 2023Article
- Understanding recurrent pregnancy loss: recent advances on its etiology, clinical diagnosis, and management.Medical review (2021) · 2022Review
- Oocyte quality and aging.JBRA assisted reproduction · 2022Review
- Genetic variation in placental insufficiency: What have we learned over time?Frontiers in cell and developmental biology · 2022Review
- Sex Differences Are Here to Stay: Relevance to Prenatal Care.Journal of clinical medicine · 2021Review
- Chromosomal variants accumulate in genomes of the spontaneous aborted fetuses revealed by chromosomal microarray analysis.PloS one · 2021Article
- Article
- Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss.Journal of assisted reproduction and genetics · 2020Article
- How common is germinal mosaicism that leads to premeiotic aneuploidy in the female?Journal of assisted reproduction and genetics · 2019Review
- RNA-seq as a tool for evaluating human embryo competence.Genome research · 2019Article
- Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.Molecular human reproduction · 2015Article
- Detection of chromosome x;18 breakpoints and translocation of the xq22.3;18q23 regions resulting in variable fertility phenotypes.Case reports in genetics · 2012Article
- Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination.Genetics · 2008Article
- Diagnosis of Sex Chromosome Disorders and Prenatal Diagnosis of Down Syndrome using Interphase Fluorescent In-Situ Hyperidization Technique.International journal of health sciences · 2007Article
- Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXX.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2004Article
- Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies.American journal of human genetics · 2003Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recurrent miscarriage due to sporadic chromosomal abnormalities may simply be a consequence of the dramatic increase of trisomic conceptions with increased maternal age. However, it is also possible that some couples are at increased risk of abnormalities as a result of gonadal mosaicism, factors affecting chromosome structure and segregation, increased sperm aneuploidy in the male partner, or accelerated "aging" of the ovaries. We report cytogenetic and molecular findings from 122 spontaneous abortions (SAs) from 54 couples who were ascertained as having two or more documented aneuploid or polyploid SAs. The distribution of abnormalities in this group was similar to those from 307 SAs that involved chromosome abnormalities and were diagnosed at the same center but did not involve documented recurrent aneuploidy/polyploidy. Although recurrence of the same abnormality was observed in eight families, this number was equal to that expected by chance, indicating that gonadal mosaicism is rarely the explanation for recurrence. The origin of the abnormality was determined in 37 SAs from 23 of the couples in the study. A maternal meiotic origin was involved in 30 trisomies and in 1 triploid SA; 3 additional maternal trisomies were of possible somatic origin. A paternal origin was found in the remaining two trisomies and in one triploid SA. In addition, one double trisomy was the consequence of both a maternal and a paternal meiotic error. These results confirm that the etiology of trisomy is predominantly a result of meiotic errors related to increased maternal age, regardless of whether the couple has experienced one or multiple aneuploid SAs. Furthermore, this is true even when a second SA involves the same abnormality. Nonetheless, these data do not exclude some population variability in risk for aneuploidy.
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Registered trials
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