Linked Life Data

2568753

Source:http://linkedlifedata.com/resource/pubmed/id/2568753

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1989-8-14
pubmed:abstractText
We studied two small, two-generation families with the fragile X [Fra (X)] syndrome. The absolute phase of the DNA markers in relation to the disease in the mother was not known in either family. We present the derivation of risks for these families using flanking markers, taking into account the uncertainty regarding maternal phase. Since the use of flanking markers fails to yield useful counseling data in the 1/3 to 1/7 of all cases where a single recombination event occurs between the two flanking markers, we calculate the probability that this method is likely to be successful or unsuccessful when prenatal diagnosis is attempted using linked RFLPs.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
92-9
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Molecular diagnosis of the fragile X [Fra (X)] syndrome: calculation of risks based on flanking DNA markers in small phase-unknown families.
pubmed:affiliation
Department of Pathology, Kingston General Hospital, Ontario, Canada.
pubmed:publicationType
Journal Article