A girl with fragile X premutation from sperm donation

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

Research output: Contribution to journalArticle

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)888-892
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number7
DOIs
StatePublished - Apr 1 2008

Keywords

  • Fragile X syndrome
  • Genetic screening
  • Premutation
  • Sperm donation

ASJC Scopus subject areas

  • Genetics(clinical)

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