ArticleCurrent genomics2010
Somatic mosaicism in cases with small supernumerary marker chromosomes.
Article in Current genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes With Known Adverse Outcome. A Systematic Review.Frontiers in genetics · 2019Pooled it
- A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature.Frontiers in genetics · 2024Article
- Perspectives on the Application of Cytogenomic Approaches in Chronic Lymphocytic Leukaemia.Diagnostics (Basel, Switzerland) · 2023Review
- Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2023Article
- Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome.Frontiers in pediatrics · 2022Article
- Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array.Molecular cytogenetics · 2020Article
- Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.Molecular cytogenetics · 2019Article
- [A clinical and genetic analysis of a child with supernumerary marker chromosome 15-caused mental retardation, intractable epilepsy, and central precocious puberty].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally.Case reports in obstetrics and gynecology · 2018Article
- Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization.Scientific reports · 2017Article
- Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis.Stem cell reports · 2017Article
- Comprehensive chronic lymphocytic leukemia diagnostics by combined multiplex ligation dependent probe amplification (MLPA) and interphase fluorescence in situ hybridization (iFISH).Molecular cytogenetics · 2014Article
- Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.Molecular cytogenetics · 2013Article
- [Chromosome markers: case report].The Pan African medical journal · 2013Article
- Clinical impact of proximal autosomal imbalances.Balkan journal of medical genetics : BJMG · 2012Article
- Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2012Article
- How to narrow down chromosomal breakpoints in small and large derivative chromosomes--a new probe set.Journal of applied genetics · 2012Article
- Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics.Molecular cytogenetics · 2012Article
- Small supernumerary marker chromosomes and uniparental disomy have a story to tell.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2011Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Somatic mosaicism is something that is observed in everyday lives of cytogeneticists. Chromosome instability is one of the leading causes of large-scale genome variation analyzable since the correct human chromosome number was established in 1956. Somatic mosaicism is also a well-known fact to be present in cases with small supernumerary marker chromosomes (sSMC), i.e. karyotypes of 47,+mar/46. In this study, the data available in the literature were collected concerning the frequency mosaicism in different subgroups of patients with sSMC. Of 3124 cases with sSMC 1626 (52%) present with somatic mosaicism. Some groups like patients with Emanuel-, cat-eye- or i(18p)- syndrome only tend rarely to develop mosaicism, while in Pallister-Killian syndrome every patient is mosaic. In general, acrocentric and non-acrocentric derived sSMCs are differently susceptible to mosaicism; non-acrocentric derived ones are hereby the less stable ones. Even though, in the overwhelming majority of the cases, somatic mosaicism does not have any detectable clinical effects, there are rare cases with altered clinical outcomes due to mosaicism. This is extremely important for prenatal genetic counseling. Overall, as mosaicism is something to be considered in at least every second sSMC case, array-CGH studies cannot be offered as a screening test to reliably detect this kind of chromosomal aberration, as low level mosaic cases and cryptic mosaics are missed by that.
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