Document Detail


The female and the fragile X reviewed.
MedLine Citation:
PMID:  11480913     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Nearly 15 years ago, female carriers of the fragile X mental retardation syndrome were noted to have an increased incidence of twin pregnancies. Since then, much evidence has accumulated supporting the notion of ovarian dysfunction in fragile X carriers, in the forms of increased dizygotic twinning and premature ovarian failure. However, despite a decade and a half of research regarding this association, the underlying mechanism remains a mystery. This article reviews the population-based studies that have examined this association and discusses possible reasons for the variations in results. In addition, results from more recent studies on endocrine function in fragile X carriers are discussed. These data, when considered in conjunction with our emerging understanding of the molecular biology of the fragile X gene (FMR1) and its protein product (FMRP), are beginning to elucidate possible mechanisms for the association between fragile X syndrome and ovarian dysfunction.
Authors:
A Kenneson; S T Warren
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Seminars in reproductive medicine     Volume:  19     ISSN:  1526-8004     ISO Abbreviation:  Semin. Reprod. Med.     Publication Date:  2001 Jun 
Date Detail:
Created Date:  2001-08-01     Completed Date:  2001-12-31     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  100909394     Medline TA:  Semin Reprod Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  159-65     Citation Subset:  IM    
Affiliation:
Howard Hughes Medical Institute and Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Fragility / genetics
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome / complications*,  genetics*,  metabolism,  physiopathology
Heterozygote
Humans
Models, Biological
Nerve Tissue Proteins / genetics,  metabolism
Ovarian Failure, Premature / complications*,  genetics*,  metabolism,  physiopathology
RNA-Binding Proteins*
Twins / genetics
X Chromosome / genetics*
Chemical
Reg. No./Substance:
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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