《英文msh詞典》Royer Syndromes
[入口詞] Royer Syndromes
[主題詞] Prader-Willi Syndrome
[英文釋義] A chromosomal disorder associated with a deletion of the proximal portion of the long arm of chromosome 15 (15q11-q13) in the majority of affected individuals. The abnormalities occur exclusively on the paternally derived chromosome 15. Clinical manifestations include MENTAL RETARDATION,muscular hypotonia,OBESITY,hyperphagia,short stature,hypogonadism,strabismus,and hypersomnolence. (Menkes,Textbook of Child Neurology,5th ed,p229)