发明名称 METHOD FOR THE DIAGNOSIS OF GENETIC DISORDERS ASSOCIATED WITH CHROMOSOMAL ABNORMALITIES AND UNIPARENTAL DISOMY
摘要 <p>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.</p>
申请公布号 WO1994006936(A1) 申请公布日期 1994.03.31
申请号 US1993008501 申请日期 1993.09.10
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