Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.
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.
Xiao
Peng
P
Department of Biomedical Sciences, School of Medicine, Creighton University, Omaha, Nebraska, USA.
Liu
Pengyuan
P
Weber
James L
JL
Papasian
Christopher J
CJ
Recker
Robert R
RR
Deng
Hong-Wen
HW
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
D005819:Genetic Markers