UNIGE document Scientific Article
previous document  unige:8642  next document
add to browser collection

Fortuitous detection of uniparental isodisomy of chromosome 6

Bittencourt, M. C.
Chabod, J.
Gos, A.
Lamy, B.
Fellmann, F.
Plouvier, E.
show hidden authors show all authors [1 - 10]
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
PMID: 9032654
Full text
(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. https://archive-ouverte.unige.ch/unige:8642

442 hits

0 download


Deposited on : 2010-07-12

Export document
Format :
Citation style :