Linked Life Data

19284984

Source:http://linkedlifedata.com/resource/pubmed/id/19284984

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2-3
pubmed:dateCreated
2009-5-15
pubmed:abstractText
A male patient, who had intra-uterine growth retardation, a low birth weight and hypotonia due to a chromosome 2q33.1 deletion, is described. At the age of 20 years, he displays short stature, microcephaly, a high forehead, microstomia, large teeth and is hypertonic. He is severely mentally retarded, has not developed speech, is hyperactive, anxious and at times aggressive. Full tiling array showed a de novo 14 Mb deletion at chromosome region 2q32.3q33.2, further delineating the 2q33.1 microdeletion syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1878-0849
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
52
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
120-2
pubmed:meshHeading
pubmed:articleTitle
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.
pubmed:affiliation
University Hospitals of Leuven, Center for Human Genetics, Herestraat 49, B-3000 Leuven, Belgium. thomy.deravel@uz.kuleuven.ac.be
pubmed:publicationType
Journal Article, Case Reports