Prader-Willi syndrome
Chapter: 6
Clinical features are hypotonia and difficulty with feeding at birth, hyperphagia and excessive obesity in childhood. Hypoplasia of the external genitalia in boys, small hands and feet, psychomotor retardation, and seizures. About two-thirds of patients with Prader-Willi syndrome a have a detectable deletion of 15q11-12. Important as an example of the effects of genomic imprinting.