METHOD FOR THE DIAGNOSIS OF GENETIC DISORDERS ASSOCIATED WITH CHROMOSOMAL ABNORMALITIES AND UNIPARENTAL DISOMY

摘要

A method for the diagnosis of a genetic disorder associated with a chromosome structural abnormality or with uniparental disomy of a critical chromosomal region and for determining the parental origin of such a genetic disorder, and for determining the genotype of a patient with such a genetic disorder. The method utilizes in situ hybridization on metaphase chromosomes or interphase nuclei and analysis of tandemly repeated sequence polymorphisms in the chromosomal region associated with the disorder.