ArticleMolecular cytogenetics2011
Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells.
Article in Molecular cytogenetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 65 citations in OpenAlex.
- Trial
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- A six-attribute classification of genetic mosaicism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- Chromosome Missegregation in Single Human Oocytes Is Related to the Age and Gene Expression Profile.International journal of molecular sciences · 2020Article
- The Genetic Landscape of Human Glioblastoma and Matched Primary Cancer Stem Cells Reveals Intratumour Similarity and Intertumour Heterogeneity.Stem cells international · 2019Article
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- Whole-Exome Sequencing of ETV6/RUNX1 in Four Childhood Acute Lymphoblastic Leukaemia CasesAsian Pacific journal of cancer prevention : APJCP · 2017Article
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- Detecting Genetic Mosaicism in Cultures of Human Pluripotent Stem Cells.Stem cell reports · 2016Article
- Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.BMC medical genetics · 2014Article
- Chromosome aberrations in a large series of spontaneous miscarriages in the German population and review of the literature.Molecular cytogenetics · 2014Article
- Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms.Molecular cytogenetics · 2013Article
- Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data.Movement disorders : official journal of the Movement Disorder Society · 2013Article
- Detection limits of DNA copy number alterations in heterogeneous cell populations.Cellular oncology (Dordrecht, Netherlands) · 2013Article
- Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes.Molecular cytogenetics · 2012Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe results of cytogenetic investigations on unbalanced chromosome anomalies, both constitutional and acquired, were largely improved by comparative genomic hybridization on microarray (a-CGH), but in mosaicism the ability of a-CGH to reliably detect imbalances is not yet well established. This problem of sensitivity is even more relevant in acquired mosaicism in neoplastic diseases, where cells carrying acquired imbalances coexist with normal cells, in particular when the proportion of abnormal cells may be low.We constructed a synthetic mosaicism by mixing the DNA of three patients carrying altogether seven chromosome imbalances with normal sex-matched DNA. Dilutions were prepared mimicking 5%, 6%, 7%, 8%, 10% and 15% levels of mosaicism. Oligomer-based a-CGH (244 K whole-genome system) was applied on the patients' DNA and customized slides designed around the regions of imbalance were used for the synthetic mosaics. RESULTS AND
conclusionsThe a-CGH on the synthetic mosaics proved to be able to detect as low as 8% abnormal cells in the tissue examined. Although in our experiment some regions of imbalances escaped to be revealed at this level, and were detected only at 10-15% level, it should be remarked that these ones were the smallest analyzed, and that the imbalances recurrent as clonal anomalies in cancer and leukaemia are similar in size to those revealed at 8% level.
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