ArticleHuman molecular genetics2010
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 202 papers, 3 of them syntheses that pooled it.
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Who cites it
202 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Pooled it
- Lowering of Circulating Sclerostin May Increase Risk of Atherosclerosis and Its Risk Factors: Evidence From a Genome-Wide Association Meta-Analysis Followed by Mendelian Randomization.Arthritis & rheumatology (Hoboken, N.J.) · 2023Pooled it
- Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology.Journal of assisted reproduction and genetics · 2018Pooled it
- Article
- Using SNP microarray to distinguish mosaicism from chimerism in a phenotypically normal male newborn with prenatal 46,XX/46,XY karyotype.Molecular cytogenetics · 2026Article
- Studies of post-partum placentas provide insights into the origin of structural chromosomal aberrations.Human reproduction (Oxford, England) · 2026Article
- Application of microdeletion and microduplication screening in preimplantation genetic testing: a case report.Journal of medical case reports · 2026Article
- Incidental Detection of Acute Leukemia During Genetic Evaluation of Neurodevelopmental Disorder in a Pediatric Clinic: A Case Report.Case reports in pediatrics · 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
- Repeat cell-free DNA screening after initial false-positive results and term placental analysis for confined mosaicism: a prospective cohort study.Archives of gynecology and obstetrics · 2025Article
- Article
- 46,XY/46,XY Chimerism: Prenatal Presentation and Postnatal Outcome.Molecular genetics & genomic medicine · 2025Article
- Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq.BMC pregnancy and childbirth · 2025Article
- SNP array analysis facilitates the identification of novel chromosomal alterations associated with disease and SNPs related to adverse drug reactions in neuroblastoma.Oncology letters · 2025Article
- Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses.BMC medical genomics · 2025Article
- The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.Communications biology · 2025Article
- Chromosomal quality control in hPSCs: A practical guide to SNP array analysis with GenomeStudio.Frontiers in cell and developmental biology · 2025Article
- Microdissection of Distinct Morphological Regions Within Uveal Melanomas Identifies Novel Drug Targets.Cancers · 2024Article
- Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.Orphanet journal of rare diseases · 2024Article
- Human embryos harbor complex mosaicism with broad presence of aneuploid cells during early development.Cell discovery · 2024Article
142 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors.
Funding
Abstract
Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events. There are differences between these mechanisms in terms of (i) impact on embryonic development; (ii) co-occurrence of mosaic trisomy and UPD and (iii) potential recurrence risks. We used a genome-wide single nucleotide polymorphism (SNP) array to study patients with chromosome aneuploidy mosaicism, UPD and one individual with XX/XY chimerism to gain insight into the developmental mechanism and timing of these events. Sixteen cases of mosaic aneuploidy originated mitotically, and these included four rare trisomies and all of the monosomies, consistent with the influence of selective factors. Five trisomies arose meiotically, and three of the five had UPD in the disomic cells, confirming increased risk for UPD in the case of meiotic non-disjunction. Evidence for the meiotic origin of aneuploidy and UPD was seen in the patterns of recombination visible during analysis with 1-3 crossovers per chromosome. The mechanisms of formation of the UPD included trisomy rescue, with and without concomitant trisomy, monosomy rescue, and mitotic formation of a mosaic segmental UPD. UPD was also identified in an XX/XY chimeric individual, with one cell line having complete maternal UPD consistent with a parthenogenetic origin. Utilization of SNP arrays allows simultaneous evaluation of genomic alterations and insights into aneuploidy and UPD mechanisms. Differentiation of mitotic and meiotic origins for aneuploidy and UPD supports existence of selective factors against full trisomy of some chromosomes in the early embryo and provides data for estimation of recurrence and disease mechanisms.
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