TY - JOUR T1 - A girl with fragile X premutation from sperm donation. JF - //Am. j. med. genet., Part A Y1 - 2008 A1 - Wirojanan, Juthamas A1 - Angkustsiri, Kathleen A1 - Tassone, Flora A1 - Gane, Louise A1 - Hagerman, Randi KW - fragile X syndrome KW - genetic screening KW - premutation KW - sperm donation AB - : 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. PB - (1)M.I.N.D. Institute, University of California-Davis Medical Center, Sacramento, California(2)Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hatyai, Songkhla, Thailand(3)Department of Pediatrics, University of California-Dav CY - Copyright (C) 2008 John Wiley & Sons, Inc. VL - 146A SN - 1552-4825 CP - 7 L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=reference&D=ovftj&NEWS=N&AN=01445366-200804010-00011 ID - 4352 ER -