ArticleMolecular cytogenetics2012
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.
Article in Molecular cytogenetics, 2012. 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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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- Hi-C technology for detection of chromosomal rearrangements in families with adverse pregnancy outcomes: a preliminary exploratory study.BMC pregnancy and childbirth · 2026Article
- Identifying a rare mechanism: double parallel trisomy rescue leading to combined segmental and whole-chromosome mosaicism in an IVF-derived embryo.Journal of assisted reproduction and genetics · 2025Article
- Building the brain mosaic: an expanded view.Trends in genetics : TIG · 2024Review
- Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.Nature genetics · 2023Article
- What proportion of embryos should be considered for transfer following a mosaic diagnosis? A study of 115 clinics from a central diagnostic laboratory.Journal of assisted reproduction and genetics · 2023Article
- Small supernumerary marker chromosomes derived from human chromosome 11.Frontiers in genetics · 2023Article
- Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.Molecular cytogenetics · 2022Article
- Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.Molecular syndromology · 2020Article
- Article
- Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.Molecular cytogenetics · 2017Review
- Mosaic trisomy 8 detected by fibroblasts cultured of skin.Colombia medica (Cali, Colombia) · 2016Article
- Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.Molecular cytogenetics · 2016Article
- Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism.International journal of genomics · 2015Article
- Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.European journal of human genetics : EJHG · 2014Article
- A genomic view of mosaicism and human disease.Nature reviews. Genetics · 2013Review
- Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood.Case reports in genetics · 2013Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found in up to one percent of both the healthy and patient populations. It is generally accepted that such constitutional mosaicisms are derived from postzygotic somatic mutations. However, few studies have tested this assumption. Here we determined the origin of CNVs which coexist with a normal cell line in nine individuals. We show that in 2/9 the CNV originated during meiosis. The existence of two cell lines with 46 chromosomes thus resulted from two parallel trisomy rescue events during postzygotic mitoses.
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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.