Abstract
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 language | English (US) |
---|---|
Pages (from-to) | 176-178 |
Number of pages | 3 |
Journal | American Journal of Medical Genetics |
Volume | 116 |
Issue number | 2 |
DOIs | |
State | Published - Jan 15 2003 |
Keywords
- 47, XYY
- Fragile X syndrome
- Mental retardation
- Obesity
- Prader-Willi syndrome
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)