title: Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.
abstract: Uniparental disomy (UPD) is a rare genetic abnormality. During a whole genome linkage study we identified a case of paternal uniparental isodisomy 3 serendipitously. This is the first ascertained human paternal UPD for chromosome 3 (UPD3pat). The finding of this paternal UPD case of the entire chromosome 3 with no apparent phenotypic disorders suggests that there are no paternal imprinted genes causing rare genetic disorders on chromosome 3.
authors.affiliation: Department of Biomedical Sciences, School of Medicine, Creighton University, Omaha, Nebraska, USA.
authors.forename: Peng
authors.initials: P
authors.lastname: Xiao
authors.forename: Pengyuan
authors.initials: P
authors.lastname: Liu
authors.forename: James L
authors.initials: JL
authors.lastname: Weber
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Papasian
authors.forename: Robert R
authors.initials: RR
authors.lastname: Recker
authors.forename: Hong-Wen
authors.initials: HW
authors.lastname: Deng
mesh_terms: D000483:Alleles; D002871:Chromosome Banding; D002893:Chromosomes, Human, Pair 3; D005220:Fathers; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010641:Phenotype; D040641:Quantitative Trait Loci; D024182:Uniparental Disomy
chemical_list: D005819:Genetic Markers