Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.
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.
Stalker
Heather J
HJ
Raymond C. Philips Unit and Division of Pediatric Genetics, University of Florida, Gainesville, USA. stalkhj@peds.ufl.edu
Keller
Kory L
KL
Gray
Brian A
BA
Zori
Roberto T
RT
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D005600:Fragile X Syndrome / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D009765:Obesity / Q000473:pathology; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics / Q000473:pathology*; D014997:XYY Karyotype / Q000235:genetics / Q000473:pathology*