Linked Life Data

8195962

Source:http://linkedlifedata.com/resource/pubmed/id/8195962

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1994-6-30
pubmed:abstractText
This article describes the detailed ocular pathology found in a premature neonate, born at 34 weeks, with multiple congenital anomalies resulting from de novo trisomy 1q32-qter. The ocular defects include goniodysgenesis, persistent tunica vasculosa lentis and hyaloid vessels, hypopigmentation of the posterior iris epithelium, ectopia of the ciliary processes, and abnormal insertion of the ciliary muscle and cataract. This is the first report of the detailed ocular pathology in a case of trisomy 1q and is also unusual in that the chromosomal defect has apparently arisen de novo in the proband.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0191-3913
pubmed:author
pubmed:issnType
Print
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
41-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter.
pubmed:affiliation
Department of Anatomy, University of Glasgow, UK.
pubmed:publicationType
Journal Article, Case Reports