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A girl with fragile X premutation from sperm donation
Author(s) -
Wirojanan Juthamas,
Angkustsiri Kathleen,
Tassone Flora,
Gane Louise W.,
Hagerman Randi J.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31876
Subject(s) - fragile x syndrome , girl , fragile x , premature ovarian failure , fmr1 , offspring , ataxia , medicine , sperm , pediatrics , psychology , genetics , developmental psychology , psychiatry , gynecology , biology , pregnancy , andrology , gene
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.