ArticleMolecular cytogenetics2008
On the origin of trisomy 21 Down syndrome.
Article in Molecular cytogenetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 139 citations in OpenAlex.
- Parental and grandparental age in relation to Down syndrome risk and congenital heart disease in affected children: a case-control study in Peru.European journal of pediatrics · 2026Article
- The Multifactorial Causes of Down Syndrome During Pregnancy: A Narrative Review of Genetic, Environmental, and Maternal Influences.Health science reports · 2025Article
- Trisomy 21 and Assisted Reproductive Technologies: A review.JBRA assisted reproduction · 2022Review
- A Critical Realist Approach on Autism: Ontological and Epistemological Implications for Knowledge Production in Autism Research.Frontiers in psychology · 2021Article
- How common is germinal mosaicism that leads to premeiotic aneuploidy in the female?Journal of assisted reproduction and genetics · 2019Review
- Mature miR-99a Upregulation in the Amniotic Fluid Samples from Female Fetus Down Syndrome Pregnancies: A Pilot Study.Medicina (Kaunas, Lithuania) · 2019Article
- Association of Parental Age and the Type of Down Syndrome on the Territory of Bosnia and Herzegovina.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2016Observational
- Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.Molecular cytogenetics · 2016Article
- Genetic mosaics and the germ line lineage.Genes · 2015Review
- Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome.Molecular cytogenetics · 2015Article
- Article
- Non-meiotic chromosome instability in human immature oocytes.European journal of human genetics : EJHG · 2014Article
- Maternal Germinal Trisomy 21 in Down Syndrome.Journal of clinical medicine · 2014Article
- Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers.Molecular cytogenetics · 2014Article
- Smoking-induced chromosomal segregation anomalies identified by FISH analysis of sperm.Molecular cytogenetics · 2014Article
- Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family.Balkan journal of medical genetics : BJMG · 2013Article
- Germline mosaicism does not explain the maternal age effect on trisomy.American journal of medical genetics. Part A · 2013Article
- Molecular Cytogenetics: the first impact factor (2.36).Molecular cytogenetics · 2013Article
- Single cell genomics of the brain: focus on neuronal diversity and neuropsychiatric diseases.Current genomics · 2012Article
- Meiotic origins of maternal age-related aneuploidy.Biology of reproduction · 2012Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDown syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability. It is well known that the extra chromosome 21 most often originates from the mother, the incidence increases with maternal age, there may be aberrant maternal chromosome 21 recombination and there is a higher recurrence in young women. In spite of intensive efforts to understand the underlying reason(s) for these characteristics, the origin still remains unknown. We hypothesize that maternal trisomy 21 ovarian mosaicism might provide the major causative factor.
resultsWe used fluorescence in situ hybridization (FISH) with two chromosome 21-specific probes to determine the copy number of chromosome 21 in ovarian cells from eight female foetuses at gestational age 14-22 weeks. All eight phenotypically normal female foetuses were found to be mosaics, containing ovarian cells with an extra chromosome 21. Trisomy 21 occurred with about the same frequency in cells that had entered meiosis as in pre-meiotic and ovarian mesenchymal stroma cells.
conclusionWe suggest that most normal female foetuses are trisomy 21 ovarian mosaics and the maternal age effect is caused by differential selection of these cells during foetal and postnatal development until ovulation. The exceptional occurrence of high-grade ovarian mosaicism may explain why some women have a child with Down syndrome already at young age as well as the associated increased incidence at subsequent conceptions. We also propose that our findings may explain the aberrant maternal recombination patterns previously found by family linkage analysis.
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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.