Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15 because the gene (s) on the maternal chromosome S) have virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting the Prader-Willi Syndrome region.
Genes:
SNRPN
Disorders:
Intellectual Disability
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members
