Linked Life Data

11480765

Source:http://linkedlifedata.com/resource/pubmed/id/11480765

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2001-8-1
pubmed:abstractText
Estimates suggest that the 22q11.2 deletion occurs in approximately 1 in 4000 live births, making this disorder a significant health concern in the general population. The 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome, suggesting that they are phenotypic variants of the same disorder. The findings associated with the 22q11.2 deletion are extensive and highly variable from patient to patient. In this chapter, we discuss the features of this disorder, with an emphasis on the clinical findings and an approach to the evaluation of these patients. In addition, we present the current understanding at the molecular level, of the genomic mechanisms and genes that are likely to play a central role in causing this frequent genetic condition.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0065-3101
pubmed:author
pubmed:issnType
Print
pubmed:volume
48
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
39-73
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
The 22q11.2 deletion syndrome.
pubmed:affiliation
University of Pennsylvania School of Medicine, and The Children's Hospital of Philadelphia, USA.
pubmed:publicationType
Journal Article, Review