ArticleChromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology2012
Twenty-four chromosome FISH in human IVF embryos reveals patterns of post-zygotic chromosome segregation and nuclear organisation.
Article in Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Clinical and morphological correlates of embryonic mosaicism: a retrospective cohort study of 10,469 blastocysts in PGT-A cycles.Frontiers in endocrinology · 2026Article
- The chromosomal challenge of human embryos: Mechanisms and fundamentals.HGG advances · 2025Review
- Review
- The mechanisms and clinical application of mosaicism in preimplantation embryos.Journal of assisted reproduction and genetics · 2020Review
- Mosaicism in health and disease - clones picking up speed.Nature reviews. Genetics · 2017Review
- Article
- 22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.Molecular syndromology · 2016Article
- Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.Molecular syndromology · 2016Article
- Impact of sperm DNA chromatin in the clinic.Journal of assisted reproduction and genetics · 2016Review
- A high incidence of chromosome abnormalities in two-cell stage porcine IVP embryos.Journal of applied genetics · 2015Article
- Chromosome territory repositioning induced by PHA-activation of lymphocytes: A 2D and 3D appraisal.Molecular cytogenetics · 2015Article
- Array comparative genomic hybridization analyses of all blastomeres of a cohort of embryos from young IVF patients revealed significant contribution of mitotic errors to embryo mosaicism at the cleavage stage.Reproductive biology and endocrinology : RB&E · 2014Article
- Hierarchical radial and polar organisation of chromosomes in human sperm.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2012Article
- Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Fluorescence in situ hybridisation (FISH) was first applied on in vitro fertilisation (IVF) embryos for the preimplantation genetic diagnosis of sex, then chromosome translocations and later for chromosome copy number (PGS). Because of the controversy surrounding PGS diagnostically, it has been replaced by array-based approaches; however, FISH remains a powerful tool for investigating mechanisms of both post-zygotic segregation error and nuclear organisation, especially if most or all of the chromosomes in the karyotype can be analysed. The purpose of this study was to develop and apply a 24 chromosome FISH assay to investigate chromosome-specific rates of gain and loss, nuclear organisation patterns and the veracity of the original PGS result in days 5-6 human embryos. Analysis of 17 embryos by this newly developed approach gave strong signals for all chromosomes; it revealed chromosome copy number for each human chromosome per cell for each embryo and the nuclear address of the (mostly centromeric) loci probed. As all embryos were surplus to IVF requirements for both transfer and freezing (and many had an abnormal PGS indication) expected high levels of chromosome abnormalities were seen and no single nucleus displayed a normal complement; all were mosaic. Certain patterns emerged, however, namely that chromosome loss was more common than gain and apparent mitotic non-disjunction. Moreover, the centromeric probes tended preferentially to occupy the nuclear centre. Where we had a prior day 3 biopsy PGS result, it was confirmed, in part, by 24 colour FISH in most but not all cases.
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