title: Premature ovarian failure: a phenotypic expression of fragile X premutation.
abstract: Fragile X syndrome is the most common cause of mental retardation in the male. Historically, fragile X premutation was considered to be phenotypically silent. In recent reports the premutation has been associated with premature ovarian failure and fragile X-associated tremor/ataxia syndrome. This case describes a 24-year-old woman who presented with irregular menstrual cycles secondary to premature ovarian failure. Subsequent genetic analysis confirmed that she has a premutation for fragile X with 70 CGG trinucleotide repeats.
authors.affiliation: Sanford School of Medicine of The University of South Dakota, USA.
authors.forename: Kristin
authors.initials: K
authors.lastname: Holoch
authors.forename: Quinn
authors.initials: Q
authors.lastname: Stein
authors.forename: Jason
authors.initials: J
authors.lastname: Flanagan
authors.forename: Keith
authors.initials: K
authors.lastname: Hansen
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics*; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000150:complications / Q000235:genetics*; D006801:Humans; D008597:Menstrual Cycle; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: D004247:DNA; D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human