Linked Life Data

9272715

Source:http://linkedlifedata.com/resource/pubmed/id/9272715

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1997-10-2
pubmed:abstractText
We report on an infant with a karyotype of 46,XY,del(2) (p11.2p13), the fourth reported case in the literature. At birth, the child had eventration of the diaphragm. His phenotype was suggestive of a connective tissue disorder with scoliosis, pectus carinatum, long slender fingers, camptodactyly, cryptorchidism, hypertonia and myopia. His facial appearance was mildly dysmorphic and strongly resembled a previously reported patient with the same deletion. The child expired at 2 months of age. Some generalizations can be made about the phenotype for del(2)(p11.2p13), despite reporting of cases at different ages.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
52
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
61-2
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality.
pubmed:affiliation
Department of Pediatrics, University of Pittsburgh, Children's Hospital of Pittsburgh, PA, USA.
pubmed:publicationType
Journal Article, Review, Case Reports