Article
The Prader-Willi phenotype of fragile X syndrome.
Journal of developmental and behavioral pediatrics : JDBP - 1 Apr 2007
Nowicki Stephen T, Tassone Flora, Ono Michele Y, Ferranti Jessica, Croquette Marie Francoise, Goodlin-Jones Beth, Hagerman Randi J
Abstract excerpt
The Prader-Willi phenotype (PWP) of fragile X syndrome (FXS) is associated with obesity and hyperphagia similar to Prader-Willi syndrome (PWS), but without cytogenetic or methylation abnormalities at 15q11-13. Thirteen cases of PWP and FXS are reported here that were identified by obesity and hyperphagia. Delayed puberty was seen in 5 of 9 cases who had entered puberty, a small penis or testicles in seven of 13...
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