Linked Life Data

9099844

Source:http://linkedlifedata.com/resource/pubmed/id/9099844

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-5-12
pubmed:abstractText
We report a patient with a de novo translocation 13/18, identified by high-resolution banding. The breakpoints were ascertained by fluorescence in situ hybridisation with whole chromosome 13 and 18 paints. Short tandem repeat typing demonstrated the aberration to be of combined maternal/paternal origin and thereby confirmed its de novo and postzygotic formation. Thus, a gonadal mosaic in one of the parents resulting in a higher recurrence risk could be excluded.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
99
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
521-2
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18.
pubmed:affiliation
Abteilung für Klinische Genetik, Institut fúr Anthropologie und Humangenetik der Universität Tübingen, Germany.
pubmed:publicationType
Journal Article, Case Reports