Definición:
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother () which are imprinted () and hence silenced. Clinical manifestations include ; ; ; ; short stature; ; ; and . (Menkes, Textbook of Child Neurology, 5th ed, p229)
Sinónimos:
Sindrome de Prader-Willi /
SÃndrome de Labhart-Willi /
Sindrome de Labhart-Willi /
SÃndrome de Royer /