Linked Life Data

19041959

Source:http://linkedlifedata.com/resource/pubmed/id/19041959

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2009-1-12
pubmed:abstractText
Expansion of the CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene within the premutation range is one of the known genetic factors associated with premature ovarian failure and earlier age at menopause. Studies have shown that approximately 16-26% of female carriers will develop premature ovarian failure, and current research is focussed on the identification of molecular factors that predict its occurrence in female carriers. In this report we present two sisters who are compound heterozygous for a premutation, and who were referred because of very early menopause, occurring at the age of 17 years in the youngest sister. Premature ovarian failure associated with FMR1 premutation at such an early age has not been reported in the literature before.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1878-0849
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
52
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
37-40
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:articleTitle
Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.
pubmed:affiliation
Center for Human Genetics, University Hospital Leuven, Leuven, Belgium. hilde.vanesch@med.kuleuven.be
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't