ArticleAmerican journal of medical genetics. Part A2013
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
Article in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 76 citations in OpenAlex.
- Beckwith-Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomy: a case report.Human genomics · 2026Article
- Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome.The Journal of clinical endocrinology and metabolism · 2026Article
- Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.International journal of molecular sciences · 2025Article
- Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.Histology and histopathology · 2024Review
- Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses.Molecular cytogenetics · 2023Article
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?European journal of human genetics : EJHG · 2023Article
- Syndromic forms of congenital hyperinsulinism.Frontiers in endocrinology · 2023Review
- Review
- First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.Clinical epigenetics · 2022Article
- Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics.Frontiers in genetics · 2022Review
- Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.Cold Spring Harbor molecular case studies · 2021Article
- Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.Journal of molecular medicine (Berlin, Germany) · 2020Article
- Chromosome aberrations in pressure-induced triploid Atlantic salmon.BMC genetics · 2020Article
- Syndromic Disorders Caused by Disturbed Human ImprintingJournal of clinical research in pediatric endocrinology · 2020Review
- Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population.American journal of human genetics · 2019Article
- Overgrowth syndromes - clinical and molecular aspects and tumour risk.Nature reviews. Endocrinology · 2019Review
- Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness.The Journal of clinical endocrinology and metabolism · 2019Article
- Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome.Cancers · 2019Article
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Authors and funding
19 authors at 3 institutions in 1 country.
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Abstract
Here we describe three subjects with mosaic genome-wide paternal uniparental isodisomy (GWpUPD) each of whom presented initially with overgrowth, hemihyperplasia (HH), and hyperinsulinism (HI). Due to the severity of findings and the presence of additional features, SNP array testing was performed, which demonstrated mosaic GWpUPD. Comparing these individuals to 10 other live-born subjects reported in the literature, the predominant phenotype is that of pUPD11 and notable for a very high incidence of tumor development. Our subjects developed non-metastatic tumors of the adrenal gland, kidney, and/or liver. All three subjects had pancreatic hyperplasia resulting in HI. Notably, our subjects to date display minimal features of other diseases associated with paternal UPD loci. Both children who survived the neonatal period have displayed near-normal cognitive development, likely due to a favorable tissue distribution of the mosaicism. To understand the range of UPD mosaicism levels, we studied multiple tissues using SNP array analysis and detected levels of 5-95%, roughly correlating with the extent of tissue involvement. Given the rapidity of tumor growth and the difficulty distinguishing malignant and benign tumors in these GWpUPD subjects, we have utilized increased frequency of ultrasound (US) and alpha-fetoprotein (AFP) screening in the first years of life. Because of a later age of onset of additional tumors, continued tumor surveillance into adolescence may need to be considered in these rare patients.
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