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Title

Fortuitous detection of uniparental isodisomy of chromosome 6

Authors
Bittencourt, M. C.
Chabod, J.
Gos, A.
Lamy, B.
Fellmann, F.
Plouvier, E.
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Published in Journal of Medical Genetics. 1997, vol. 34, no. 1, p. 77-78
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.
Keywords Cells, CulturedChildChromosome AberrationsChromosomes, Human, Pair 6/ geneticsFemaleGenetic MarkersGenomic Imprinting/ geneticsHistocompatibility TestingHumansLymphocytesMicrosatellite Repeats/geneticsPedigreePolymorphism, GeneticTranslocation, Genetic
Identifiers
PMID: 9032654
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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. https://archive-ouverte.unige.ch/unige:8642

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Deposited on : 2010-07-12

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