Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders

Hum Mutat. 2006 Feb;27(2):133-7. doi: 10.1002/humu.20302.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Chromosome Banding
  • Chromosomes, Human, Pair 3*
  • Fathers
  • Genetic Markers
  • Homozygote
  • Humans
  • Karyotyping
  • Male
  • Microsatellite Repeats
  • Mutation*
  • Phenotype
  • Quantitative Trait Loci
  • Uniparental Disomy*

Substances

  • Genetic Markers