ArticleAmerican journal of medical genetics. Part A2009
Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 211 citations in OpenAlex.
- Maternal age as a driver of genome instability: mechanisms linking aneuploidy, mutagenesis and mitochondrial dysfunction.Archives of toxicology · 2026Review
- Separable downmodulation of meiotic axis protein deposition and DNA break induction at chromosome ends.eLife · 2026Article
- Immune Dysregulation in Down Syndrome: Implications for Infectious Susceptibility and Vaccine Response.Journal of clinical immunology · 2026Review
- Comparative language performance in children and adolescents with 22q11.2ds syndrome and down syndrome.Journal of neurodevelopmental disorders · 2026Article
- A New Hypothesis on the Etiology of Down Syndrome: The Role of Anti-Zona Pellucida Antibodies as an Age-Independent Factor.International journal of molecular sciences · 2026Article
- The Multifactorial Causes of Down Syndrome During Pregnancy: A Narrative Review of Genetic, Environmental, and Maternal Influences.Health science reports · 2025Article
- Spindle-localized F-actin regulates polar MTOC organization and the fidelity of meiotic spindle formation.Nature communications · 2025Article
- Disrupted Neurogenesis from Basal Intermediate Precursor Cells Alters the Postnatal Neocortex in the TcMAC21 Mouse Model of Down Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Keeping it safe: control of meiotic chromosome breakage.Trends in genetics : TIG · 2025Review
- Insights into embryonic chromosomal instability: mechanisms of DNA elimination during mammalian preimplantation development.Frontiers in cell and developmental biology · 2024Review
- Psychological capital, quality of life, and well-being in mother caregivers of individuals with down syndrome.Frontiers in psychology · 2023Article
- Socioeconomic, Ethnocultural, Substance- and Cannabinoid-Related Epidemiology of Down Syndrome USA 1986-2016: Combined Geotemporospatial and Causal Inference Investigation.International journal of environmental research and public health · 2022Observational
- Article
- Trisomy 21 and Assisted Reproductive Technologies: A review.JBRA assisted reproduction · 2022Review
- Understanding etiology of chromosome 21 nondisjunction from gene × environment models.Scientific reports · 2021Article
- Mechanisms of ovarian aging.Reproduction (Cambridge, England) · 2021Review
- Leukemia Risk in a Cohort of 3.9 Million Children with and without Down Syndrome.The Journal of pediatrics · 2021Article
- The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte.PLoS genetics · 2021Article
- Case Report: Twin Pregnancy Gives Birth to a Girl with Partial Trisomy 21 Mosaicism afterFrontiers in genetics · 2021Article
- Down syndrome.Nature reviews. Disease primers · 2020Review
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
Down syndrome caused by meiotic nondisjunction of chromosome 21 in humans, is well known to be associated with advanced maternal age, but success in identifying and understanding other risk factors has been limited. Recently published work in a U.S. population suggested intriguing interactions between the maternal age effect and altered recombination patterns during meiosis, but some of the results were counter-intuitive. We have tested these hypotheses in a population sample from India, and found that essentially all of the results of the U.S. study are replicated even in our ethnically very different population. We examined meiotic recombination patterns in a total of 138 families from the eastern part of India, each with a single free trisomy 21 child. We genotyped each family with a set of STR markers using PCR and characterized the stage of origin of nondisjunction and the recombination pattern of maternal chromosome 21 during oogenesis. Our sample contains 107 maternal meiosis I errors and 31 maternal meiosis II errors and we subsequently stratified them with respect to maternal age and the number of detectable crossover events. We observed an association between meiosis I nondisjunction and recombination in the telomeric 5.1 Mb of chromosome 21. By contrast, in meiosis II cases we observed preferential pericentromeric exchanges covering the proximal 5.7 Mb region, with interaction between maternal age and the location of the crossover. Overall reduction of recombination irrespective of maternal age is also evident in meiosis I cases. Our findings are very consistent with previously reported data in a U.S. population and our results are the first independent confirmation of those previous reports. This not only provides much needed confirmation of previous results, but it suggests that the genetic etiology underlying the occurrence of trisomy 21 may be similar across human populations.
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