Linked Life Data

6931098

Source:http://linkedlifedata.com/resource/pubmed/id/6931098

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1980-10-24
pubmed:abstractText
An unbalanced Y to X translocation due to a de novo mutation is described in a female with some clinical features of the Turner syndrome. Her karyotype is defined as 46,X,t(X;Y)(Xp11.2;Yq11). Hae III restriction analysis revealed an amount of male-specific DNA sequences in the normal male range. DNA replication analysis showed that in all cells studied the translocation X chromosome was late replicating and that the X segment of the translocation chromosome was later replicating while replication of the Y segment varied. A serologic test indicated a reduced titer of H-Y antigen, and biochemical studies for the enzyme steroid sulfatase revealed activity in the male range.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
54
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
303-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1980
pubmed:articleTitle
A new case of Y to X translocation in a female.
pubmed:publicationType
Journal Article, Case Reports