Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome

Simple item page
dc.contributor.authorUrzúa, Abraham
dc.contributor.authorBurattini, Sofía
dc.contributor.authorPinochet, Constanza
dc.contributor.authorBenavides, Felipe
dc.contributor.authorRepetto, Gabriela
dc.date.accessioned2022-07-12T17:46:49Z
dc.date.available2022-07-12T17:46:49Z
dc.date.issued2019
dc.description.abstractBeckwith-Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk of embryonic tumors. It results from alterations in genes controlled by imprinting centers H19DMR (Imprinting Center [IC] 1) and KvDMR (IC2). Strategies for diagnostic confirmation include methylation analysis and CDKN1C sequencing. We present a newborn with placentomegaly, hyperinsulinism and adrenal cytomegaly, but no typical external features of BWS. The patient had normal genetic studies in blood. However, adrenal and liver tissues showed hypermethylation of IC1 and hypomethylation of IC2. Microsatellite analysis confirmed mosaic paternal uniparental disomy. This study demonstrates the importance of analyzing additional tissues to reduce underdiagnosis of somatic mosaicism in BWS.es
dc.description.versionVersión Publicadaes
dc.identifier.citationUrzua A, Burattini S, Pinochet C, Benavides F, Repetto GM. Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome. J Pediatr Genet. 2019 Dec;8(4):226-230. doi: 10.1055/s-0039-1692197.es
dc.identifier.urihttp://doi.org/10.1055/s-0039-1692197es
dc.identifier.urihttp://hdl.handle.net/11447/6355
dc.language.isoenes
dc.relation.projectFunding This study was funded by the Fondecyt-Chile 1171014; Child Health Foundation, Birmingham, AL, USA, and Rare Diseases Program at ICIM, Clínica Alemana Universidad del Desarrollo, Chile. The funding organizations played no role in study design, in the collection, analysis, and interpretation of data, in the writing of the case report, or in the decision to submit the case report for publicationes
dc.subjectBeckwith–Wiedemann syndromees
dc.subjectHyperinsulinismes
dc.subjectMosaicismes
dc.subjectNeonatal hypoglycemiaes
dc.subjectUniparental disomyes
dc.titleSomatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndromees
dc.typeArticlees
dcterms.sourceJournal of pediatric geneticses

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
10-1055-s-0039-1692197.pdf
Size:
252.8 KB
Format:
Adobe Portable Document Format
Description:
Texto completo restringido
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

Artículos Medicina y Ciencias de la Salud

Implementado por OpenGeek Services