Vol. 27 (5) 2006 Neuro endocrinology letters

Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.

OBJECTIVES: In contrast to most human autosomal genes which are expressed biallelically, the expression of imprinted genes depends on the parental origin of the allele. Prader-Willi syndrome is a neurobehavioral disorder in which the expression of active paternal alleles of imprinted genes from chromosomal region 15q11-q13 is abolished .....