Linked Life Data

83210

Source:http://linkedlifedata.com/resource/pubmed/id/83210

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1979-3-28
pubmed:abstractText
A child is described with most of the typical clinical features of the cri-du-chat syndrome. G- and C-banding studies revealed the karyotype 45,XX, -5, -15, +tdic (5;15) with the loss of short arm material from chromosome 5. Centromeric heterochromatin of the translocated No. 15 is still present in the translocation chromosome. However, no silver precipitation after AgNO3-staining was observed on the translocation chromosome, thus indicating a loss or genetic inactivation of the NOR-region of the translocated No. 15. These cytogenetic results and their possible relationship to the cri-du-chat phenotype are discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
345-50
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Cri-du-chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin.
pubmed:publicationType
Journal Article, Case Reports