SynthesisFrontiers in genetics2019
Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes With Known Adverse Outcome. A Systematic Review.
Synthesis in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed.
- Review
- Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.HGG advances · 2026Article
- Small Supernumerary Marker Chromosome (sSMC) 15 in Male Primary Infertility: A Case Study.Case reports in medicine · 2025Article
- Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models.Frontiers in genetics · 2025Article
- Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2024Article
- A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.Frontiers in genetics · 2024Article
- Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism.Frontiers in genetics · 2024Article
- Cytogenomic epileptology.Molecular cytogenetics · 2023Review
- Small supernumerary marker chromosomes derived from human chromosome 11.Frontiers in genetics · 2023Article
- Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report.Molecular cytogenetics · 2022Article
- The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes.Biomedicines · 2022Article
- Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome.Frontiers in pediatrics · 2022Article
- Next-generation phenotyping in cat-eye syndrome based on computer-aided facial dysmorphology analysis of normal photographs.Molecular genetics & genomic medicine · 2021Article
- Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.Biomedicines · 2021Article
- First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing.Genes · 2021Article
- Small supernumerary marker chromosomes derived from chromosome 14 and/or 22.Molecular cytogenetics · 2021Article
- Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis.Molecular cytogenetics · 2021Article
- Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC).BioMed research international · 2021Article
- The Cytogenomic "Theory of Everything": Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging.International journal of molecular sciences · 2020Article
- Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array.Molecular cytogenetics · 2020Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Small supernumerary marker chromosomes (sSMCs) are present in ∼3.3 million of presently living human beings. The majority of these sSMC carriers (i.e. ∼2.1 million) will never know about their condition, as they are perfectly healthy and just may learn by chance about it, e.g. if chromosomal analysis is done for some reason during their life time. The remainder ∼1.2 million of sSMC carriers are clinically affected either due to adverse effects of gained genetic material being present on the sSMC and/or by uniparental disomy of the sSMC's sister chromosomes. Influence of mosaicism being present in 50% of sSMC carriers is controversy discussed in the literature. Even though genotype-phenotype correlation for sSMCs progressed during last years, still there are only eight sSMC-associated syndromes characterized yet, which may go together with mosaicism. Here we summarize presently available data for carriers of sSMCs normally leading to these well-defined syndromes, however, showing (almost) no clinical signs. This can be observed in ∼1 to 30% of the corresponding sSMC-carriers, thus, a high impact for counselling in corresponding prenatal
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