Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis.
paper
Cited
Public
Unavailable
- Authors
- Delhanty, J D A
- Year
- 2005
- Journal
- Cytogenetic and genome research
- PMID
- 16192699
- DOI
- 10.1159/000086894
The mechanisms of aneuploidy induction in human oogenesis mainly involve nondisjunction arising during the first and second meiotic divisions. Nondisjunction equally affects both whole chromosomes and chromatids, in the latter case it is facilitated by "predivision" or precocious centromere division. Karyotyping and CGH studies show an excess of hypohaploidy, which is confirmed in studies of preimplantation embryos, providing evidence in favour of anaphase lag as a mechanism. Preferential involvement of the smaller autosomes has been clearly shown but the largest chromosomes are also abnormal in many cases. Overall, the rate of chromosomal imbalance in oocytes from women aged between 30 and 35 has been estimated at 11% from recent karyotyping data but accruing CGH results suggest that the true figure should be considerably higher. Clear evidence has been obtained in favour of germinal or gonadal mosaicism as a predisposing factor. Constitutional aneuploidy in embryos is most frequent for chromosomes 22, 16, 21 and 15; least frequently involved are chromosomes 14, X and Y, and 6. However, embryos of women under 37 are far more likely to be affected by mosaic aneuploidy, which is present in over 50% of 3-day-old embryos. There are two main types, diploid/aneuploid and chaotic mosaics. Chaotic mosaics arise independently of maternal age and may be related to centrosome anomalies and hence of male origin. Aneuploid mosaics most commonly arise by chromosome loss, followed by chromosome gain and least frequently by mitotic nondisjunction. All may be related to maternal age as well as to lack of specific gene products in the embryo. Partial aneuploidy as a result of chromosome breakage affects a minimum of 10% of embryos.
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| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Identifying a rare mechanism: double parallel trisomy rescue leading to combined segmental and whole-chromosome mosaicism in an IVF-derived embryo. | Kubar E et al. | β | 2025 | β |
| Chromosome analysis of foetal tissue from 1903 spontaneous abortion patients in 5 regions of China: a retrospective multicentre study. | Zhang J et al. | β | 2023 | β |
| Association of ovarian stimulation and embryonic aneuploidy in in vitro fertilization cycles with preimplantation genetic testing: A narrative systematic review. | Rodriguez-Purata J et al. | β | 2022 | β |
| The effect of trophectoderm biopsy technique and sample handling on artefactual mosaicism. | Coll L et al. | β | 2022 | β |
| Prevalence, types and possible factors influencing mosaicism in IVF blastocysts: results from a single setting. | Coll L et al. | β | 2021 | β |
| The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos. | Mostafa Nayel D et al. | β | 2021 | β |
| How common is germinal mosaicism that leads to premeiotic aneuploidy in the female? | Delhanty JD et al. | β | 2019 | β |
| Mysteries in embryonic development: How can errors arise so frequently at the beginning of mammalian life? | Schneider I et al. | β | 2019 | β |
| Transcriptomic behavior of genes associated with chromosome 21 aneuploidies in early embryo development. | Sanchez-Ribas I et al. | β | 2019 | β |
| Connecting links between genetic factors defining ovarian reserve and recurrent miscarriages. | Dean DD et al. | β | 2018 | β |
| Frequency of chromosomal aneuploidy in high quality embryos from young couples using preimplantation genetic screening. | Fesahat F et al. | β | 2017 | β |
| Maternal common variant rs2305957 spanning PLK4 is associated with blastocyst formation and early recurrent miscarriage. | Zhang Q et al. | β | 2017 | β |
| Abnormalities in centrosome number in human embryos and embryonic stem cells. | Gu YF et al. | β | 2016 | β |
| Chromosomal instability in mammalian pre-implantation embryos: potential causes, detection methods, and clinical consequences. | Daughtry BL et al. | β | 2016 | β |
| The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? | Seemanova E et al. | β | 2016 | β |
| 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. | Chow JF et al. | β | 2014 | β |
| Chromosome analysis in embryos from young patients with previous parity. | Kilani Z et al. | β | 2014 | β |
| Karyotype characterization of in vivo- and in vitro-derived porcine parthenogenetic cell lines. | Liu Q et al. | β | 2014 | β |
| Non-meiotic chromosome instability in human immature oocytes. | Daina G et al. | β | 2014 | β |
| Chromosomal integrity of human preimplantation embryos at different days post fertilization. | Dekel-Naftali M et al. | β | 2013 | β |
| Evolution of aneuploidy up to Day 4 of human preimplantation development. | Mertzanidou A et al. | β | 2013 | β |
| Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. | Forsberg LA et al. | β | 2013 | β |
| Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. | Forsberg LA et al. | β | 2013 | β |
| Temporal and developmental-stage variation in the occurrence of mitotic errors in tripronuclear human preimplantation embryos. | Mantikou E et al. | β | 2013 | β |
| The motile and invasive capacity of human endometrial stromal cells: implications for normal and impaired reproductive function. | Weimar CH et al. | β | 2013 | β |
| Detectable clonal mosaicism from birth to old age and its relationship to cancer. | Laurie CC et al. | β | 2012 | β |
| Differential metabolic profiling of non-pure trisomy 21 human preimplantation embryos. | SΓ‘nchez-Ribas I et al. | β | 2012 | β |
| Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident. | Sperling K et al. | β | 2012 | β |
| Molecular aspects of implantation failure. | Koot YE et al. | β | 2012 | β |
| Recurrent implantation failure: gamete and embryo factors. | Das M et al. | β | 2012 | β |
| Structural genetic variation in the context of somatic mosaicism. | Dumanski JP et al. | β | 2012 | β |
| Twenty-four chromosome FISH in human IVF embryos reveals patterns of post-zygotic chromosome segregation and nuclear organisation. | Ioannou D et al. | β | 2012 | β |
| Are poor responders patients at higher risk for producing aneuploid embryos in vitro? | Setti AS et al. | β | 2011 | β |
| Chromosomal mosaicism in human preimplantation embryos: a systematic review. | van Echten-Arends J et al. | β | 2011 | β |
| Chromosome abnormalities in the human oocyte. | Fragouli E et al. | β | 2011 | β |
| Comprehensive embryo analysis of advanced maternal age-related aneuploidies and mosaicism by short comparative genomic hybridization. | Rius M et al. | β | 2011 | β |
| Mosaic aneuploidy in early fetal losses. | Lebedev I | β | 2011 | β |
| Preimplantation genetic screening: does it help or hinder IVF treatment and what is the role of the embryo? | Ly KD et al. | β | 2011 | β |
| Structural chromosomal aberrations, aneuploidy, and mosaicism in early cleavage mouse embryos derived from spermatozoa exposed to Ξ³-rays. | Tateno H et al. | β | 2011 | β |
| The cytogenetics of polar bodies: insights into female meiosis and the diagnosis of aneuploidy. | Fragouli E et al. | β | 2011 | β |
| Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis. | Xanthopoulou L et al. | β | 2010 | β |
| Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. | Conlin LK et al. | β | 2010 | β |
| Ontogenetic variation of the human genome. | Yurov YB et al. | β | 2010 | β |
| Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism. | Tosca L et al. | β | 2010 | β |
| Somatic genome variations in health and disease. | Iourov IY et al. | β | 2010 | β |
| The fate of the mosaic embryo: chromosomal constitution and development of Day 4, 5 and 8 human embryos. | Santos MA et al. | β | 2010 | β |
| Chaos in the embryo. | Ledbetter DH | β | 2009 | β |
| Chromosome instability is common in human cleavage-stage embryos. | Vanneste E et al. | β | 2009 | β |
| Ovarian aging: mechanisms and clinical consequences. | Broekmans FJ et al. | β | 2009 | β |
| Quantitative decision-making in preimplantation genetic (aneuploidy) screening (PGS). | Summers MC et al. | β | 2009 | β |
| Re-analysis of 166 embryos not transferred after PGS with advanced reproductive maternal age as indication. | Hanson C et al. | β | 2009 | β |
| Comprehensive molecular cytogenetic analysis of the human blastocyst stage. | Fragouli E et al. | β | 2008 | β |
| Human female meiosis: what makes a good egg go bad? | Hunt PA et al. | β | 2008 | β |
| Meiosis in oocytes: predisposition to aneuploidy and its increased incidence with age. | Jones KT | β | 2008 | β |
| Relationship between women's age and basal follicle-stimulating hormone levels with aneuploidy risk in in vitro fertilization treatment. | Thum MY et al. | β | 2008 | β |
| Somatic mosaicism for copy number variation in differentiated human tissues. | Piotrowski A et al. | β | 2008 | β |
| Stability of aneuploidy rate in polar bodies in two cohorts from the same patient. | Vialard F et al. | β | 2008 | β |
| The clinical implementation of sperm chromosome aneuploidy testing: pitfalls and promises. | Carrell DT | β | 2008 | β |
| Determination of the genetic status of cleavage-stage human embryos by microsatellite marker analysis following multiple displacement amplification. | Renwick PJ et al. | β | 2007 | β |
| Gender effects on the incidence of aneuploidy in mammalian germ cells. | Pacchierotti F et al. | β | 2007 | β |
| How safe is germinal vesicle stage oocyte rescue? Aneuploidy analysis of in vitro matured oocytes. | VlaisavljeviΔ V et al. | β | 2007 | β |
| Molecular abnormalities in oocytes from women with polycystic ovary syndrome revealed by microarray analysis. | Wood JR et al. | β | 2007 | β |
| Oocyte aneuploidy mechanisms are different in two situations of increased chromosomal risk: older patients and patients with recurrent implantation failure after in vitro fertilization. | Vialard F et al. | β | 2007 | β |
| Oocyte karyotyping by comparative genomic hybridization [correction of hybrydization] provides a highly reliable method for selecting "competent" embryos, markedly improving in vitro fertilization outcome: a multiphase study. | Sher G et al. | β | 2007 | β |
| Embryo aneuploidy screening for repeated implantation failure and unexplained recurrent miscarriage. | Findikli N et al. | β | 2006 | β |
| Preliminary FISH studies on spermatozoa and embryos in patients with variable degrees of teratozoospermia and a history of poor prognosis. | Kahraman S et al. | β | 2006 | β |