A girl with fragile X premutation from sperm donation.

TitleA girl with fragile X premutation from sperm donation.
Publication TypeJournal Article
Year of Publication2008
AuthorsWirojanan J, Angkustsiri K, Tassone F, Gane L, Hagerman R
Journal//Am. j. med. genet., Part A
Pagination888 - 892
Date Published2008
ISBN Number1552-4825
Keywordsfragile X syndrome, genetic screening, premutation, sperm donation

: 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. (C) 2008 Wiley-Liss, Inc., Copyright (C) 2008 John Wiley & Sons, Inc.

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