ArticleEuropean journal of human genetics : EJHG2011
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 48 citations in OpenAlex.
- Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome.Translational pediatrics · 2025Article
- First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.Molecular genetics & genomic medicine · 2023Article
- Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report.Diagnostics (Basel, Switzerland) · 2023Article
- Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.Annals of laboratory medicine · 2022Article
- Article
- Phenotypes and epigenetic errors in patients with Beckwith-Wiedemann syndrome in China.Translational pediatrics · 2020Article
- Diagnosis and Management of Beckwith-Wiedemann Syndrome.Frontiers in pediatrics · 2019Review
- Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts.Molecular genetics & genomic medicine · 2018Article
- Pancreatoblastoma: an Atypical Presentation and a Literature Review.Journal of gastrointestinal cancer · 2018Review
- Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Nature reviews. Endocrinology · 2018Review
- Insights into beta cell regeneration for diabetes via integration of molecular landscapes in human insulinomas.Nature communications · 2017Article
- CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.Scientific reports · 2016Article
- New developments in Silver-Russell syndrome and implications for clinical practice.Epigenomics · 2016Review
- (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.European journal of human genetics : EJHG · 2016Article
- A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.Clinical epigenetics · 2016Article
- Cystic fibrosis and beckwith-wiedemann syndrome: a case report.Journal of clinical medicine research · 2015Article
- Neonatal tumours.Pediatric surgery international · 2013Review
- Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.Epigenetics · 2013Article
- A genomic view of mosaicism and human disease.Nature reviews. Genetics · 2013Review
- Different methylation patterns in BWS/SRS cases clarified by MS-MLPA.Molecular biology reports · 2013Article
Corrections and comments
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Authors and funding
13 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Beckwith-Wiedemann syndrome (BWS) is a phenotypically and genotypically heterogeneous overgrowth syndrome characterized by somatic overgrowth, macroglossia and abdominal wall defects. Other usual findings are hemihyperplasia, embryonal tumours, adrenocortical cytomegaly, ear anomalies, visceromegaly, renal abnormalities, neonatal hypoglycaemia, cleft palate, polydactyly and a positive family history. BWS is a complex, multigenic disorder associated, in up to 90% of patients, with alteration in the expression or function of one or more genes in the 11p15.5 imprinted gene cluster. There are several molecular anomalies associated with BWS and the large proportion of cases, about 85%, is sporadic and karyotypically normal. One of the major categories of BWS molecular alteration (10-20% of cases) is represented by mosaic paternal uniparental disomy (pUPD), namely patients with two paternally derived copies of chromosome 11p15 and no maternal contribution for that. In these patients, in addition to the effects of IGF2 overexpression, a decreased level of the maternally expressed gene CDKN1C may contribute to the BWS phenotype. In this paper, we reviewed a series of nine patients with BWS because of pUPD using several methods with the aim to evaluate the percentage of mosaicism, the methylation status at both loci, the extension of the pUPD at the short arm and the breakpoints of recombination. Fine mapping of mitotic recombination breakpoints by single-nucleotide polymorphism-array in individuals with UPD and fine estimation of epigenetic defects will provide a basis for understanding the aetiology of BWS, allowing more accurate prognostic predictions and facilitating management and surveillance of individuals with this disorder.
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