Linked Life Data

1355155

Source:http://linkedlifedata.com/resource/pubmed/id/1355155

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8819
pubmed:dateCreated
1992-10-1
pubmed:abstractText
Because a locus on chromosome 22q11 is deleted in most individuals with DiGeorge and Shprintzen syndromes--conditions in which heart abnormalities are an important feature--we have looked for deletions in nine families with recurrent outflow-tract heart defects. In five families, chromosome 22 deletions were detected in all the living affected individuals studied and also in the clinically normal father of three affected children. The deletion was transmitted from parents to offspring and was associated with an increase in the severity of cardiac defects. No deletions were found in four families in which the parents were normal and affected siblings had anatomically identical defects. We propose that deletions within band q11 of chromosome 22 are an important cause of familial heart defects.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0140-6736
pubmed:author
pubmed:issnType
Print
pubmed:day
5
pubmed:volume
340
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
573-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Deletions within chromosome 22q11 in familial congenital heart disease.
pubmed:affiliation
Division of Human Genetics, University of Newcastle upon Tyne, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't