Linked Life Data

10204853

Source:http://linkedlifedata.com/resource/pubmed/id/10204853

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1999-6-11
pubmed:abstractText
A patient with several features consistent with duplication of 22q11.2 (cat eye syndrome or CES) was found to be mosaic for a dicentric double ring chromosome 22 on postnatal karyotyping of peripheral blood. The initial karyotype was 46,XX,r(22)(p12q13) [46]/46,XX,dic r(22)(p12q13; p12q13)[4]. The amount of material duplicated in the dic r(22) was determined to include and extend beyond the CES critical region into 22q13.3. However, karyotyping of lymphocytes and fibroblasts, at 27 and 13 months of age respectively, showed no dic r(22) present in any of the cells examined. We suggest that the CES features in this patient, and potentially in other ring cases with CES phenotypic features, might result from a high level of mosaicism for a dic r(22) during early fetal development. Usually this unstable dic r(22) is subsequently lost from most cells.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
237-41
pubmed:dateRevised
2008-11-20
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation.
pubmed:affiliation
Department of Biological Sciences, University of Alberta, Edmonton, Canada.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't