Linked Life Data

10982483

Source:http://linkedlifedata.com/resource/pubmed/id/10982483

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2000-9-27
pubmed:abstractText
A ring chromosome 7 was found in a 19-month-old girl with microcephaly, growth and developmental delay, multiple angiomas, and partial sacral agenesis. Absent sacrum is a frequent finding in patients with 7q terminal deletions; in fact, genes involved in the sacral agenesis are localized in 7q36. However, this anomaly was not described previously in patients with a ring chromosome 7. High resolution G-banding chromosome and fluorescence in situ hybridization (FISH) demonstrated that our patient lost this region during ring formation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0148-7299
pubmed:author
pubmed:copyrightInfo
Copyright 2000 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
4
pubmed:volume
94
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
52-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Ring chromosome 7 and sacral agenesis.
pubmed:affiliation
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't