ArticleChromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology2011
An algorithm for determining the origin of trisomy and the positions of chiasmata from SNP genotype data.
Article in Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 31 citations in OpenAlex.
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- Prevalence of Autosomal Monosomy and Trisomy Estimated Using Single Nucleotide Polymorphism Genotype Intensity Chip Information in a Large Population of Juvenile Dairy and Beef Cattle.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2025Article
- Non-Invasive Preimplantation Genetic Testing.Genes · 2025Review
- Naturally occurring horse model of miscarriage reveals temporal relationship between chromosomal aberration type and point of lethality.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Identifying discrepancies between clinical practice and evidence-based guideline in recurrent pregnancy loss care, a tool for clinical guideline implementation.BMC pregnancy and childbirth · 2023Article
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- Screening of in vitro-produced cattle embryos to assess incidence and characteristics of unbalanced chromosomal aberrations.JDS communications · 2023Article
- Developmental, cytogenetic and epigenetic consequences of removing complex proteins and adding melatonin during in vitro maturation of bovine oocytes.Frontiers in endocrinology · 2023Article
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- Recurrent pregnancy loss.Nature reviews. Disease primers · 2020Review
- TroX: a new method to learn about the genesis of aneuploidy from trisomic products of conception.Bioinformatics (Oxford, England) · 2014Article
- Novel approach for deriving genome wide SNP analysis data from archived blood spots.BMC research notes · 2012Article
- Twenty-four chromosome FISH in human IVF embryos reveals patterns of post-zygotic chromosome segregation and nuclear organisation.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2012Article
- Methods for comprehensive chromosome screening of oocytes and embryos: capabilities, limitations, and evidence of validity.Journal of assisted reproduction and genetics · 2012Review
- Chromosomal disorders and male infertility.Asian journal of andrology · 2012Review
- Telomere DNA deficiency is associated with development of human embryonic aneuploidy.PLoS genetics · 2011Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Trisomy causes mental retardation, pregnancy loss, IVF failure, uniparental disomy and several other pathologies, and its accurate detection is thus clinically essential. Most trisomies arise at meiosis I and are associated with increasing maternal age and reduction or alteration in recombination patterns. Investigations into the relationship between trisomy and meiotic recombination have used short tandem repeat markers; however, this approach is limited by the resolution with which the position of crossovers can identified. As cytogenetics enters the post-genomic era, recent work has used array comparative genomic hybridisation (aCGH) to screen for trisomy of all 24 chromosomes, determining chromosome copy number by dosage analysis. However, aCGH has a fundamental drawback for studying the aetiology of trisomy since neither the parent and phase of origin nor uniparental disomy can be ascertained. The development of SNP microarrays has made it possible to analyse multiple loci for sequence variation, and the proprietary software provided can determine the presence of aneuploidy by algorithms based on fluorescence intensity. To the best of our knowledge, however, such software is not equipped to determine the phase of origin of the error or the position of any chiasmata. In this study, therefore, we present an algorithm to determine the parent of origin, the phase of origin and the location of chiasmata in a series of nine "trisomy triplets" (i.e. samples derived from father, mother and their trisomic foetus). Novel adaptations of well-established principles are applied along with a simple algorithm written in Microsoft Excel for visualisation of the results. Such analysis has a range of applications in preimplantation and prenatal diagnosis.
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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.