Linked Life Data

19629498

Source:http://linkedlifedata.com/resource/pubmed/id/19629498

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2009-8-28
pubmed:abstractText
Congenital diaphragmatic hernia (CDH) occurs in multiple malformation syndromes and associations, and has been associated with cytogenetic aberrations on almost every chromosome arm. However, CDH with a duplication of chromosome 1q is very rare in the literature, and all previously reported cases with detailed clinical courses died soon after birth. We present the first surviving case of CDH with a duplication of 1q12-q23, who had arthrogryposis multiplex congenita and hypertrophic cardiomyopathy. CDH patients with a proximal duplication of chromosome 1q may have a chance for survival, and CDH with a duplication of chromosome 1q is not necessarily a lethal association.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1437-9813
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
827-31
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case.
pubmed:affiliation
Department of Gastrointestinal and Pediatric Surgery, Mie University Graduate School of Medicine, Edobashi 2-174, Tsu, Mie 514-8507, Japan. kohei815@clin.medic.mie-u.ac.jp
pubmed:publicationType
Journal Article, Case Reports