Linked Life Data

2901396

Source:http://linkedlifedata.com/resource/pubmed/id/2901396

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1988-10-19
pubmed:abstractText
During routine screening of retinoblastoma patients for esterase D activity in red blood cell lysates a patient was identified with only 50% of normal enzyme activity. Chromosome analysis showed that this patient had a small deletion within chromosome region 13q14. Parental studies showed that, whereas the father had normal enzyme levels, the mother had esterase D levels which were also 50% of normal and a similar small 13q14 deletion. Ophthalmological examination failed to demonstrate any retinal abnormality in either parent. Thus we present the first case not only of the direct transmission of a 13q14 deletion within a family but also of an individual in whom the deletion has not predisposed to tumour formation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
80
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
43-5
pubmed:dateRevised
2005-11-17
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma.
pubmed:affiliation
Department of Haematology and Oncology, Institute of Child Health, London, UK.
pubmed:publicationType
Journal Article