Linked Life Data

4061490

Source:http://linkedlifedata.com/resource/pubmed/id/4061490

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1985-12-13
pubmed:abstractText
A female infant with del(9p) syndrome was found to have the karyotype 45,XX,tdic(9;13)(p22;p13) de novo. In the translocation chromosome, various combinations of AgNOR activity and inactivity were found with suppression of either the 9 or neither centromere. These phenomena of discontinuous centromeric suppression and variation in NOR activity in the one chromosome were scored on AgNOR, GTG, and a combination of AgNOR- and GTG-banded preparations. With AgNOR staining, 15.8% tdic chromosomes were AgNOR-positive, and this coincided (in preparations with GTG banding only) with 16% tdic chromosomes with a nonstaining gap present at the NOR site. This suggested that when the NOR-nonstaining gap was present the AgNOR staining would be positive; this was confirmed by the absence of gaps in combination AgNOR-GTG-banded preparations. In cells with tdic-NOR-negative chromosomes, equal proportions of cells with the 13 or both centromeres constricted were observed, but in cells with tdic-AgNOR-positive chromosomes there was only half the proportion of tdic chromosomes with both centromeres constricted; ie, there was a (significant) tendency towards inactivity of the NOR when both centromeres were constricted in the tdic chromosome. Therefore, the 2 phenomena, variation in NOR activity and centromeric suppression, are interrelated in this case.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
577-84
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
NOR activity and centromere suppression related in a de novo fusion tdic(9;13)(p22;p13) chromosome in a child with del(9p) syndrome.
pubmed:publicationType
Journal Article, Case Reports