Linked Life Data

11241468

Source:http://linkedlifedata.com/resource/pubmed/id/11241468

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2001-3-12
pubmed:abstractText
A 3-year-old boy was diagnosed with CHARGE association on the basis of bilateral choanal atresia, absence of the semicircular canals, hypoplastic cochleae, genital hypoplasia, growth and developmental delays, cranial nerve dysfunction, and facial anomalies. Ophthalmologic and cardiac evaluations were normal. He was found to have an apparently balanced t(2;7)(p14;q21.11) chromosomal translocation. Parental karyotypes were normal. Although there is evidence suggesting a genetic basis for CHARGE association, individuals with chromosomal abnormalities and CHARGE are rare. In the described patient, the presence of characteristic CHARGE features suggests that the t(2;7)(p14;q21.11) translocation breakpoints may cause a deletion or disruption of genes within the involved regions that are involved in the generation of the CHARGE association phenotype.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0148-7299
pubmed:author
pubmed:copyrightInfo
Copyright 2001 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
99
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
115-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).
pubmed:affiliation
Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't