Linked Life Data

7903808

Source:http://linkedlifedata.com/resource/pubmed/id/7903808

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1994-2-3
pubmed:abstractText
A couple asked for prenatal testing, the husband being a retinoblastoma survivor. Family history suggested that the tumor predisposing mutation came from his paternal side. DNA analysis indicated that the foetus had not inherited that mutation. Detection of a regressed retinoblastoma in the husband's mother changed the interpretation of the haplotypes obtained, and it was concluded that the foetus had inherited the mutation. Ultrasonography on the 3rd day of extra-uterine life showed a retinal mass in the newborn's left eye. Two years later, the couple asked for a new prenatal diagnosis. DNA analysis showed that the foetus had inherited the mutant retinoblastoma haplotype from the father. Fundus examination on the 2nd day of extra-uterine life showed a retinal lesion in the newborn's left eye at the posterior pole. This case indicates the necessity of a thorough check on history and an ophthalmological examination of family members.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0030-3755
pubmed:author
pubmed:issnType
Print
pubmed:volume
207
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
106-11
pubmed:dateRevised
2007-9-17
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Prenatal detection and early diagnosis of hereditary retinoblastoma in a family.
pubmed:affiliation
Department of Ophthalmology, H.S. Raffaele, University of Milan, Italy.
pubmed:publicationType
Journal Article