Linked Life Data

8826905

Source:http://linkedlifedata.com/resource/pubmed/id/8826905

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1996-11-20
pubmed:abstractText
We report prenatal diagnosis in a family with combined antithrombin deficiency (type II heparin binding site) and factor V 506 Arg to Gln mutation. Both clinically unaffected parents are heterozygous for the antithrombin mutation, which results in a 99 Leu to Phe substitution, and the father is also heterozygous for the factor V gene defect. There is one daughter, homozygous for the antithrombin and heterozygous for the factor V mutations, who suffered a right-sided hemiparesis at the age of 4 months due to occlusion of the left middle cerebral artery and a large left sided infarct followed by further thromboembolic events. The family requested prenatal diagnosis and chorionic villi was sampled at 12 weeks gestation. The fetus was shown to be heterozygous for the antithrombin and factor V gene mutations, the same genotype as the unaffected father. No further intervention was considered necessary. To our knowledge this is the first report of prenatal diagnosis in antithrombin deficiency.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0007-1048
pubmed:author
pubmed:issnType
Print
pubmed:volume
94
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
753-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Prenatal diagnosis in combined antithrombin and factor V gene mutation.
pubmed:affiliation
Charing Cross and Westminster Medical School, London, U.K.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't