ArticleMolecular cytogenetics2013
Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms.
Article in Molecular cytogenetics, 2013. 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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Who cites it
21 citing papers in PubMed, 35 citations in OpenAlex.
- The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities.Biomolecules · 2026Review
- Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome.The Journal of clinical investigation · 2025Article
- The role of genetic factors in pediatric myelodysplastic syndromes with different outcomes.BMC pediatrics · 2024Article
- Clonal evolution in inherited marrow failure syndromes predicts disease progression.Hematology. American Society of Hematology. Education Program · 2023Review
- Convergent somatic evolution commences in utero in a germline ribosomopathy.Nature communications · 2023Article
- Quality control ensures fidelity in ribosome assembly and cellular health.The Journal of cell biology · 2023Review
- Review
- Case Report: Heterozygous Germline Variant inFrontiers in genetics · 2022Article
- Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.Frontiers in oncology · 2022Review
- The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.Molecular cytogenetics · 2021Article
- Somatic genetic rescue of a germline ribosome assembly defect.Nature communications · 2021Article
- Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype.Molecular cytogenetics · 2020Article
- Somatic genetic rescue in Mendelian haematopoietic diseases.Nature reviews. Genetics · 2019Review
- Ribosomopathies: Old Concepts, New Controversies.Trends in genetics : TIG · 2019Review
- Article
- Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.Molecular diagnosis & therapy · 2019Review
- Significance of Clonal Mutations in Bone Marrow Failure and Inherited Myelodysplastic Syndrome/Acute Myeloid Leukemia Predisposition Syndromes.Hematology/oncology clinics of North America · 2018Review
- Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.Advances in biological regulation · 2018Review
- Review
- Mechanism of eIF6 release from the nascent 60S ribosomal subunit.Nature structural & molecular biology · 2015Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAn interstitial deletion of the long arms of chromosome 20, del(20)(q), is frequent in the bone marrow (BM) of patients with myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and myeloproliferative neoplasms (MPN), and it is recurrent in the BM of patients with Shwachman-Diamond syndrome (SDS), who have a 30-40% risk of developing MDS and AML.
resultsWe report the results obtained by microarray-based comparative genomic hybridization (a-CGH) in six patients with SDS, and we compare the loss of chromosome 20 material with one patient with MDS, and with data on 92 informative patients with MDS/AML/MPN and del(20)(q) collected from the literature.
conclusionsThe chromosome material lost in MDS/AML/MPN is highly variable with no identifiable common deleted regions, whereas in SDS the loss is more uniform: in 3/6 patients it was almost identical, and the breakpoints that we defined are probably common to most patients from the literature. In some SDS patients less material may be lost, due to different distal breakpoints, but the proximal breakpoint is in the same region, always leading to the loss of the EIF6 gene, an event which was related to a lower risk of MDS/AML in comparison with other patients.
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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.