Linked Life Data

1551671

Source:http://linkedlifedata.com/resource/pubmed/id/1551671

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1992-4-27
pubmed:abstractText
A 45,X karyotype was found in a boy with dysmorphic features, hypoglycaemia and pancytopenia. DNA analysis showed the presence of the Y-chromosomal DNA sequences SRY, ZFY, DYZ4, DYZ3 and DYS1. Using fluorescent in situ hybridization, we located DYZ4 and DYZ3 on chromosome 11qter and concluded that a de novo translocation (Y;11) (q11.2;q24) with a deletion of 11q24----qter and a deletion of Yq11.2----Yqter were present; Jacobsen syndrome and azoospermia are associated with these deletions. Signs of Jacobsen syndrome were observed in the patient.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
88
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
661-7
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome.
pubmed:affiliation
Department of Clinical Genetics, Academic Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
pubmed:publicationType
Journal Article, Review, Case Reports