Header

UZH-Logo

Maintenance Infos

Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11


Dutly, Fabrizio; Baumer Wolz, Alessandra; Kayserili, Hülya; Yüksel-Apak, Memnune; Zerova, Tatjana E; Hebisch, Gundula; Schinzel, Albert (1998). Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. American Journal of Medical Genetics, 79(5):347-353.

Abstract

Genomic imprinting of chromosome arm 11p is involved in the Wiedemann-Beckwith syndrome (WBS). About 20% of patients with sporadic WBS have paternal uniparental disomy (UPD) of 11p. Mitotic recombination at the 11p region has been suggested to be responsible for the somatic mosaicism in these patients. Our current study concerning sporadic WBS patients demonstrated six patients with mosaic isodisomy restricted to part of 11p and one patient with mosaic paternal uniparental disomy for the whole chromosome 11. Apparently the clinical findings for this patient did not differ from data reported for other WBS patients. This case makes it unlikely that the proximal short arm and the long arm of chromosome 11 contain imprinted genes with a phenotype recognizable prenatally or in infancy, and gives some support to the hypothesis that non-mosaic UPD-11 is prenatally lethal.

Abstract

Genomic imprinting of chromosome arm 11p is involved in the Wiedemann-Beckwith syndrome (WBS). About 20% of patients with sporadic WBS have paternal uniparental disomy (UPD) of 11p. Mitotic recombination at the 11p region has been suggested to be responsible for the somatic mosaicism in these patients. Our current study concerning sporadic WBS patients demonstrated six patients with mosaic isodisomy restricted to part of 11p and one patient with mosaic paternal uniparental disomy for the whole chromosome 11. Apparently the clinical findings for this patient did not differ from data reported for other WBS patients. This case makes it unlikely that the proximal short arm and the long arm of chromosome 11 contain imprinted genes with a phenotype recognizable prenatally or in infancy, and gives some support to the hypothesis that non-mosaic UPD-11 is prenatally lethal.

Statistics

Citations

Dimensions.ai Metrics
39 citations in Web of Science®
48 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

0 downloads since deposited on 18 Apr 2023
0 downloads since 12 months

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Wiedemann-Beckwith syndrome, paternal uniparental disomy, somatic mosaicism, imprinting
Language:English
Date:12 October 1998
Deposited On:18 Apr 2023 14:32
Last Modified:29 Apr 2024 01:37
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0148-7299
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/(SICI)1096-8628(19981012)79:5<347::AID-AJMG4>3.0.CO;2-G
PubMed ID:9779800