Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype |
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Authors: | Stalker Heather J Keller Kory L Gray Brian A Zori Roberto T |
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Affiliation: | Raymond C. Philips Unit and Division of Pediatric Genetics, University of Florida, Gainesville, USA. stalkhj@peds.ufl.edu |
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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. |
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