Linked Life Data

7795593

Source:http://linkedlifedata.com/resource/pubmed/id/7795593

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1995-8-3
pubmed:abstractText
Partial isodisomy of 11p has been observed in some patients with Beckwith-Wiedemann syndrome. In this study, we demonstrate somatic mosaicism directly through PCR and single cell analysis on blood lymphocytes from a patient with Beckwith-Wiedemann syndrome. Whole genome amplification was performed on single cells and the resultant product was subjected to locus specific microsatellite marker analysis using PCR. Two populations of cells were detected, a population of cells with normal biparental inheritance for chromosome 11 and a population of cells with partial paternal isodisomy of 11p between markers D11S922 (11p15.5) and D11S904 (11p14-p13). These results are consistent with somatic recombination resulting in mosaicism for paternal isodisomy. The use of single cell PCR is ideal for studying the distribution of mosaicism within and between tissues and has been used in this study to identify a cell line with uniparental disomy in a patient with Beckwith-Wiedemann syndrome.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
395-9
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome.
pubmed:affiliation
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't