title: A girl with fragile X premutation from sperm donation.
abstract: We present a girl with the fragile X premutation who obtained the premutation allele from donated sperm. Our patient has clinical characteristics of fragile X syndrome including emotional problems and neuropsychological difficulties presenting as learning disabilities. She is also at high risk for premature ovarian failure and low risk for the fragile X-associated tremor ataxia (FXTAS). We suggest fragile X DNA screening in gamete donor candidates to decrease the chance of fragile X involvement in their offspring.
authors.affiliation: MIND Institute, University of California-Davis Medical Center, Sacramento, California 95817, USA.
authors.forename: Juthamas
authors.initials: J
authors.lastname: Wirojanan
authors.forename: Kathleen
authors.initials: K
authors.lastname: Angkustsiri
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: Louise W
authors.initials: LW
authors.lastname: Gane
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
mesh_terms: D002648:Child; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D013094:Spermatozoa; D014019:Tissue Donors
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human