Article

A girl with fragile X premutation from sperm donation

MIND Institute, University of California-Davis Medical Center, Sacramento, California 95817, USA.
American Journal of Medical Genetics Part A (Impact Factor: 2.05). 04/2008; 146(7):888-92. DOI: 10.1002/ajmg.a.31876
Source: PubMed

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.

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