Linked Life Data

669700

Source:http://linkedlifedata.com/resource/pubmed/id/669700

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1978-9-15
pubmed:abstractText
Chromosome investigation of 35 individuals with a 5p- karyotype and their families revealed the presence of 27 apparently terminal deletions, four interstitial deletions, and four translocations, including two familial cases. Four of the probands with simple deletions and one of the mother were mosaics. Unusual chromosomal heteromorphism, as rendered visible after acridine orange staining, was observed on the short arm of chromosome 14 in two cases and, after heterochromatin staining, on chromosome 19 in one family. Measurement studies, carried out in probands with simple deletions and in two control groups, showed a short-arm loss clustering between 32% and 62% of the normal short-arm length. Using at least two complementary staining methods per proband, we found that the midportion of the 5p15 segment probably must be deleted to develop the typical clinical features of the cri du chat syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:day
9
pubmed:volume
42
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
143-56
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Cytologic observations in 35 individuals with a 5p- karyotype.
pubmed:publicationType
Journal Article