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Uniparental disomy (UPD), the inheritance of both copies of a chromosome from a single parent, has been identified as the cause for congenital disorders such as Silver-Russell, Prader-Willi, and Angelman syndromes. Detection of UPD has largely been performed through labour intensive screening of DNA from patients and their parents, using microsatellite markers.We applied high density single nucleotide polymorphism (SNP) microarrays to diagnose whole chromosome and segmental UPD and to study the occurrence of continuous or interspersed heterodisomic and isodisomic regions in six patients with Silver-Russell syndrome patients who had maternal UPD for chromosome 7 (matUPD7).We have devised a new high precision and high-throughput computational method to confirm UPD and to localise segments where transitions of UPD status occur. Our method reliably confirmed and mapped the matUPD7 regions in all patients in our study.Our results suggest that high density SNP arrays can be reliably used for rapid and efficient diagnosis of both segmental and whole chromosome UPD across the entire genome.

Original publication




Journal article


Journal of medical genetics

Publication Date





847 - 851


Department of Biosciences at Novum, Karolinska Institutet, Huddinge, Sweden.


Humans, Uniparental Disomy, Oligonucleotide Array Sequence Analysis, Chromosome Mapping, Sequence Analysis, DNA, Genomic Imprinting, Genotype, Phenotype, Mutation, Polymorphism, Single Nucleotide, Genome, Models, Genetic, Female, Male