Linked Life Data

19159711

Source:http://linkedlifedata.com/resource/pubmed/id/19159711

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2009-1-22
pubmed:abstractText
Abnormalities of chromosome 22 karyotype have been reported to be associated with both malrotation and aganglionosis. However, although malrotation has been reported to occur in the rare mosaic trisomy 22, Hirschsprung's disease has not. We present a case of mosaic trisomy 22 that presented during the neonatal period with malrotation and total colonic aganglionosis, and we discuss the possible pathogenesis of both conditions in the light of this rare genetic abnormality. The association of total colonic aganglionosis and mosaic trisomy 22 has not previously been reported.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1531-5037
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
e9-e11
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Mosaic trisomy 22 associated with total colonic aganglionosis and malrotation.
pubmed:affiliation
Department of Paediatric Surgery, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. timhall@doctors.org.uk
pubmed:publicationType
Journal Article, Case Reports