ArticleEuropean journal of human genetics : EJHG2014
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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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
26 citing papers in PubMed, 59 citations in OpenAlex.
- De novo unbalanced translocations have a complex history/aetiology.Human genetics · 2018Trial
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling-A Narrative Review.Journal of personalized medicine · 2024Review
- Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy).Balkan journal of medical genetics : BJMG · 2023Article
- A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.PloS one · 2022Article
- Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21.Cold Spring Harbor molecular case studies · 2021Article
- Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.Molecular genetics & genomic medicine · 2021Article
- Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case.Global medical genetics · 2020Article
- The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues.Genome medicine · 2020Article
- Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution.Frontiers in pediatrics · 2020Review
- A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.Genome medicine · 2019Article
- Article
- Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.Molecular cytogenetics · 2018Article
- Detection of structural mosaicism from targeted and whole-genome sequencing data.Genome research · 2017Article
- Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.Molecular syndromology · 2017Article
- Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization.Genomics data · 2016Article
- Clinical genomics: from a truly personal genome viewpoint.Human genetics · 2016Review
- Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.Endocrine-related cancer · 2016Article
- Maternal mosaicism forHuman genome variation · 2016Article
- Genomic characterization of chromosome 8 pericentric trisomy.Clinical case reports · 2015Article
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
Abstract
Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause several well-defined genetic syndromes as well as contribute to phenotypic variation in diseases. However, somatic mosaicism is often under-diagnosed due to challenges in detection. We evaluated 10,362 patients with a custom-designed, exon-targeted whole-genome oligonucleotide array and detected somatic mosaicism in a total of 57 cases (0.55%). The mosaicism was characterized and confirmed by fluorescence in situ hybridization (FISH) and/or chromosome analysis. Different categories of abnormal cell lines were detected: (1) aneuploidy, including sex chromosome abnormalities and isochromosomes (22 cases), (2) ring or marker chromosomes (12 cases), (3) single deletion/duplication copy number variations (CNVs) (11 cases), (4) multiple deletion/duplication CNVs (5 cases), (5) exonic CNVs (4 cases), and (6) unbalanced translocations (3 cases). Levels of mosaicism calculated based on the array data were in good concordance with those observed by FISH (10-93%). Of the 14 cases evaluated concurrently by chromosome analysis, mosaicism was detected solely by the array in 4 cases (29%). In summary, our exon-targeted array further expands the diagnostic capability of high-resolution array comparative genomic hybridization in detecting mosaicism for cytogenetic abnormalities as well as small CNVs in disease-causing genes.
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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.