How to cite this article: Wirojanan J, Angkustsiri K, Tassone F, Gane LW, Hagerman RJ. 2008. A girl with fragile X premutation from sperm donation. Am J Med Genet Part A 146A:888–892.
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Clinical Report
A girl with fragile X premutation from sperm donation†
Article first published online: 19 FEB 2008
DOI: 10.1002/ajmg.a.31876
Copyright © 2008 Wiley-Liss, Inc.
Additional Information
How to Cite
Wirojanan, J., Angkustsiri, K., Tassone, F., Gane, L. W. and Hagerman, R. J. (2008), A girl with fragile X premutation from sperm donation. Am. J. Med. Genet., 146A: 888–892. doi: 10.1002/ajmg.a.31876
- †
Publication History
- Issue published online: 24 MAR 2008
- Article first published online: 19 FEB 2008
- Manuscript Accepted: 30 APR 2007
- Manuscript Received: 1 DEC 2006
Funded by
- NICHD. Grant Numbers: HD36071, HD02274
- NINDS. Grant Number: NS044299
- Center for Disease Control and Prevention. Grant Number: U10/CCU925123
- M.I.N.D. Institute at the University of California, Davis
- Abstract
- Article
- References
- Cited By
Keywords:
- fragile X syndrome;
- premutation;
- sperm donation;
- genetic screening
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. © 2008 Wiley-Liss, Inc.