Linked Life Data

16948941

Source:http://linkedlifedata.com/resource/pubmed/id/16948941

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2006-9-4
pubmed:abstractText
Interstitial deletions in the terminal region of chromosome 6 are rare. The deletion most often occurs de novo. Mental retardation is always described. The most characteristic manifestations are microcephaly, micrognathia, hypotonia, typical facial appearance, strabismus, and congenital heart defects. Although this chromosomal syndrome does not appear to have a distinctive phenotype, epileptic seizures are uncommon in affected individuals. We report on a novel finding in a patient with the 46 XX karyotype and del(6)(q25-q26) who developed intractable epilepsy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0883-0738
pubmed:author
pubmed:issnType
Print
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
527-31
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Deletion of the long arm of chromosome 6: report on a new case with intractable epilepsy.
pubmed:affiliation
Department of Neuroscience, Division of Pediatric Neurology, Tor Vergata University of Rome, Via Nomentana 1362, 00100 Rome, Italy. caterinacerminara@hotmail.com
pubmed:publicationType
Journal Article, Case Reports