Scientific article

Fortuitous detection of uniparental isodisomy of chromosome 6

Published inJournal of medical genetics, vol. 34, no. 1, p. 77-78
Publication date1997

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.

  • 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
Citation (ISO format)
BITTENCOURT, M. C. et al. Fortuitous detection of uniparental isodisomy of chromosome 6. In: Journal of medical genetics, 1997, vol. 34, n° 1, p. 77–78.
Updates (1)
ISSN of the journal0022-2593

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