Linked Life Data

3653888

Source:http://linkedlifedata.com/resource/pubmed/id/3653888

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1987-11-17
pubmed:abstractText
In a patient described as a 45,X male with cri du chat syndrome, combined cytogenetic and molecular methods revealed Y euchromatic material to be translocated onto the short arm of one chromosome 5, resulting in a chromosome der(5)(5qter----5p14::Yp11.31----Ypter). The translocated Y euchromatin comprised only the distal short arm including the pseudoautosomal region and the so-called deletion intervals 1 and 2. A review of 45,X males from the literature showed that; most of them carry a paternally transmitted Y/autosome translocations; resulting in various autosomal deletions. Depending on the segment concerned, the deletion led to congenital malformations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
77
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
145-50
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
A Y/5 translocation in a 45,X male with cri du chat syndrome.
pubmed:affiliation
Institut für Humangenetik und Anthropologie der Universität, Freiburg i. Br., Federal Republic of Germany.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't