Linked Life Data

20684011

Source:http://linkedlifedata.com/resource/pubmed/id/20684011

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2010-8-30
pubmed:abstractText
We report on a patient with atypical Silver-Russell phenotype comprising severe growth retardation, unusual facies, bilateral Duane anomaly and infantile hypercalcemia caused by maternal uniparental iso/heterodisomy (mUPD) of chromosome 7. The development of myoclonus in this patient lends further support to the hypothesis that abnormal imprinting of the SGCE gene is responsible for some cases of myoclonus-dystonia syndrome. This case highlights the utility of SNP microarray technology as an accessible tool for the diagnosis of mUPD7 in atypical cases. We propose that depending on the balance of iso- and heterodisomic segments in a particular patient, mUPD7 may result in a range of phenotypes not confined to classic Silver-Russell syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1552-4833
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
152A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2342-5
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.
pubmed:affiliation
Genetic Health Services Victoria, and Murdoch Children's Research Institute, Melbourne, Australia.
pubmed:publicationType
Journal Article, Case Reports