Compositions and methods for detection of genomic imprinting disorders

摘要

The present invention relates to methods and compositions for identifying genetic abnormalities associated with genomic imprinting disorders. In certain embodiments, the method of the present invention involves digestion of sample DNA with methylation-sensitive restriction enzymes followed by amplification or by ligation to anchor-primers and subsequent amplification. The present invention facilitates rapid and thorough diagnosis of the major genotypes responsible for genomic imprinting syndromes.