Linked Life Data

1685358

Source:http://linkedlifedata.com/resource/pubmed/id/1685358

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1992-3-5
pubmed:abstractText
The origin of an extra marker chromosome in a patient with mental retardation and intractable epilepsy was ascertained by DNA analysis. Gene dose and restriction fragment length polymorphism (RFLP) studies of D15S9 proved that the patient was tetrasomic for the gene and that the extra chromosome was of maternal origin. On the basis of the molecular findings, further detailed GTG-banded chromosome analysis interpreted the marker chromosome as inv dup(15)(pter----q14::q14----pter). The clinical manifestations of the patient are consistent with those of the patients previously described.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
233-6
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Identification of a marker chromosome as inv dup(15) by molecular analysis.
pubmed:affiliation
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
pubmed:publicationType
Journal Article, Case Reports