Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype

Heather J. Stalker, Kory L. Keller, Brian A. Gray, Roberto T. Zori

Research output: Contribution to journalArticle

12 Scopus citations


We report on a 34-year-old developmentally disabled man referred to our clinic for evaluation of possible Prader-Willi syndrome on the basis of obesity and voracious appetite. Cytogenetic and molecular analysis revealed a 47, XYY karyotype and the presence of a trinucleotide repeat expansion resulting in fragile X syndrome. To our knowledge, this is the first report of concurrence of XYY and fragile X syndrome in the medical literature. Review of sex chromosome abnormalities associated with fragile X syndrome and phenotypic considerations are presented.

Original languageEnglish (US)
Pages (from-to)176-178
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number2
StatePublished - Jan 15 2003



  • 47, XYY
  • Fragile X syndrome
  • Mental retardation
  • Obesity
  • Prader-Willi syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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