Fortuitous detection of uniparental isodisomy of chromosome 6. Issue 1 (January 1997)

• Record Type: Journal Article
• Authors: Bittencourt, M C; Morris, M A; Chabod, J; Gos, A; Lamy, B; Fellmann, F; Antonarakis, S E; Plouvier, E; Herve, P; Tiberghien, P
• Is Part Of: Journal of medical genetics. Volume 34:Issue 1(1997)
• Page Start: 77
• Page End: 78
• Publication Date: 1997-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.34.1.77
• Languages: English
• ISSNs: 1468-6244

Abstract

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.