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Fortuitous detection of uniparental isodisomy of chromosome 6.
  1. M C Bittencourt,
  2. M A Morris,
  3. J Chabod,
  4. A Gos,
  5. B Lamy,
  6. F Fellmann,
  7. S E Antonarakis,
  8. E Plouvier,
  9. P Herve,
  10. P Tiberghien
  1. Etablissement de Transfusion Sanguine de Franche-Comté, Besançon, France.

    Abstract

    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.

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