Header

UZH-Logo

Maintenance Infos

Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation


Kotzot, Dieter; Schmitt, Silke; Bernasconi, Fabiana; Robinson, Wendy P; Lurie, Iosif W; Ilyina, Helena; Méhes, Károly; Hamel, Ben C J; Otten, Barto J; Hergersberg, Martin; Werder, Edmond; Schoenle, Eugen; Schinzel, Albert (1995). Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation. Human Molecular Genetics, 4(4):583-587.

Abstract

Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Two were detected because they were homozygous for a cystic fibrosis mutation for which only the mother was heterozygous, and one because he was homozygous for a rare COL1A2 mutation. We investigated 35 patients with either the Silver-Russell syndrome or primordial growth retardation and their parents with PCR markers to search for uniparental disomy 7. Four of 35 patients were found to have maternal disomy, including three with isodisomy and one with heterodisomy. The data confirm the hypothetical localization of a maternally imprinted gene (or more than one such gene) on chromosome 7. It is suggested to search for UPD 7 in families with an offspring with sporadic Silver-Russell syndrome or primordial growth retardation

Abstract

Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Two were detected because they were homozygous for a cystic fibrosis mutation for which only the mother was heterozygous, and one because he was homozygous for a rare COL1A2 mutation. We investigated 35 patients with either the Silver-Russell syndrome or primordial growth retardation and their parents with PCR markers to search for uniparental disomy 7. Four of 35 patients were found to have maternal disomy, including three with isodisomy and one with heterodisomy. The data confirm the hypothetical localization of a maternally imprinted gene (or more than one such gene) on chromosome 7. It is suggested to search for UPD 7 in families with an offspring with sporadic Silver-Russell syndrome or primordial growth retardation

Statistics

Citations

Dimensions.ai Metrics
229 citations in Web of Science®
238 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

12 downloads since deposited on 12 Oct 2018
6 downloads since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:National licences > 142-005
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Molecular Biology
Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:1 January 1995
Deposited On:12 Oct 2018 07:19
Last Modified:31 Jul 2020 02:03
Publisher:Oxford University Press
ISSN:0964-6906
OA Status:Green
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1093/hmg/4.4.583
Related URLs:https://www.swissbib.ch/Search/Results?lookfor=nationallicenceoxford101093hmg44583 (Library Catalogue)

Download

Green Open Access

Download PDF  'Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation'.
Preview
Content: Published Version
Language: English
Filetype: PDF (Nationallizenz 142-005)
Size: 2MB
View at publisher