Linked Life Data

2206616

Source:http://linkedlifedata.com/resource/pubmed/id/2206616

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1990-10-31
pubmed:abstractText
The clinical and cytogenetic findings of two cases of cri-du-chat syndrome are described. Both cases were females with only slight growth delay, moderate mental disability and minimal phenotypic effects. The mild phenotype was difficult to correlate with the karyotype, which on GTG and RBG banding showed that each had a regular de novo 5p deletion. The deletion in Case 1 was terminal - 46,XX,del(5) (pter----p15.2:) and in Case 2 it was interstitial - 46,XX,del(5) (pter----p15.2::p13.3----qter). The deletion in Case 2 was considerably larger than in Case 1.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1034-4810
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
152-4
pubmed:dateRevised
2007-9-24
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Two cases of cri-du-chat syndrome with mild phenotypic effect but with different size of 5p deletion.
pubmed:affiliation
Cytogenetics Unit, Oliver Latham Laboratory, Department of Health, NSW, Australia.
pubmed:publicationType
Journal Article, Case Reports