发明名称 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.
申请公布号 AU4853693(A) 申请公布日期 1994.04.12
申请号 AU19930048536 申请日期 1993.09.10
申请人 BAYLOR COLLEGE MEDICINE 发明人 AIRHART SUSAN D;MUTIRANGURA APIWAT;LEDBETTER DAVID H
分类号 C12Q1/68 主分类号 C12Q1/68
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