Fortuitous detection of uniparental isodisomy of chromosome 6

J Med Genet. 1997 Jan;34(1):77-8. doi: 10.1136/jmg.34.1.77.


Uniparental isodisomy is defined as the inheritance of two copies of the same parental chromosome and can result in defects when it produces homozygosity for a recessive mutation or in the presence of imprinting. We describe the detection of a chromosome 6 uniparental isodisomy in a 9 year old girl, discovered during a search for an HLA identical sib. HLA typing, erythrocyte phenotyping, and genotypes of microsatellite polymorphisms were compatible with a paternal isodisomy of chromosome 6, with normal biparental origin of the other chromosomes. Paternal cells were not responsive to the patient's cells in mixed lymphocyte cultures. This fortuitous detection of a chromosome 6 isodisomy suggests that cases of chromosome 6 UPD may not be deleterious and may therefore go undetected.

Publication types

  • Case Reports

MeSH terms

  • Cells, Cultured
  • Child
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 6 / genetics*
  • Female
  • Genetic Markers
  • Genomic Imprinting / genetics*
  • Histocompatibility Testing
  • Humans
  • Lymphocytes
  • Microsatellite Repeats / genetics
  • Pedigree
  • Polymorphism, Genetic
  • Translocation, Genetic


  • Genetic Markers