ArticleNature medicine2009
Chromosome instability is common in human cleavage-stage embryos.
Article in Nature medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01336400 (Genome-wide Single Cell Haplotyping as a Generic Method for Preimplantation Genetic Diagnosis), which is not on this map. Cited by 365 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genome-wide Single Cell Haplotyping as a Generic Method for Preimplantation Genetic Diagnosis
Who cites it
365 citing papers in PubMed, 1 synthesis or guideline pooled it, 890 citations in OpenAlex.
- An Updated Understanding of Human Embryonic Fragmentation.Reproductive sciences (Thousand Oaks, Calif.) · 2026Pooled it
- Towards Improving Embryo Prioritization: Parallel Next Generation Sequencing of DNA and RNA from a Single Trophectoderm Biopsy.Scientific reports · 2019Trial
- Live imaging of late-stage preimplantation human embryos reveals de novo mitotic errors.Nature biotechnology · 2026Article
- Somatic mutations and genome mosaicism in aging and disease.Experimental & molecular medicine · 2026Review
- Embryo quality control via lineage-specific aneuploid cell elimination in embryos and stem cell-derived embryo models.Nature communications · 2026Article
- Asymmetric attrition and secondary chromosome destabilization after double-strand breaks in human embryonic development.Nature communications · 2026Article
- Morphogen Gradients as Drivers of Mosaicism During Early Human Development.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue.Molecular genetics & genomic medicine · 2026Article
- Studies of post-partum placentas provide insights into the origin of structural chromosomal aberrations.Human reproduction (Oxford, England) · 2026Article
- Modest increase in the de novo single-nucleotide mutation rate in house mice born by assisted reproduction.Genome research · 2026Article
- Functional and clinical evidence for two novel heterozygousFrontiers in endocrinology · 2026Article
- Cleavage pattern, morula compaction and blastocyst morphology as determinants of live birth after single blastocyst transfer.Frontiers in reproductive health · 2026Article
- Identifying a rare mechanism: double parallel trisomy rescue leading to combined segmental and whole-chromosome mosaicism in an IVF-derived embryo.Journal of assisted reproduction and genetics · 2025Article
- Advances in single-cell DNA sequencing enable insights into human somatic mosaicism.Nature reviews. Genetics · 2025Review
- Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryos.Scientific reports · 2025Article
- Article
- X-chromosome upregulation operates on a gene-by-gene basis at RNA and protein levels.Nature communications · 2025Article
- Clinical analysis of the effect of embryonic outcomes in carriers of chromosomal translocations from different parental sources: A retrospective cohort study of 178 couples.The journal of obstetrics and gynaecology research · 2025Article
- HIF1A-mediated pathways promote euploid cell survival in chromosomally mosaic embryos.bioRxiv : the preprint server for biology · 2025Article
- Increased rate ofbioRxiv : the preprint server for biology · 2025Article
305 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosome instability is a hallmark of tumorigenesis. This study establishes that chromosome instability is also common during early human embryogenesis. A new array-based method allowed screening of genome-wide copy number and loss of heterozygosity in single cells. This revealed not only mosaicism for whole-chromosome aneuploidies and uniparental disomies in most cleavage-stage embryos but also frequent segmental deletions, duplications and amplifications that were reciprocal in sister blastomeres, implying the occurrence of breakage-fusion-bridge cycles. This explains the low human fecundity and identifies post-zygotic chromosome instability as a leading cause of constitutional chromosomal disorders.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.