A girl with fragile X premutation from sperm donation Academic Article uri icon

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.

authors

  • Wirojanan, Juthamas
  • Angkustsiri, Kathleen
  • Tassone, Flora
  • Gane, Louise W
  • Hagerman, Randi J

publication date

  • April 1, 2008