title: Fortuitous detection of uniparental isodisomy of chromosome 6.
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.
authors.affiliation: Etablissement de Transfusion Sanguine de Franche-Comté, Besançon, France.
authors.forename: M C
authors.initials: MC
authors.lastname: Bittencourt
authors.forename: M A
authors.initials: MA
authors.lastname: Morris
authors.forename: J
authors.initials: J
authors.lastname: Chabod
authors.forename: A
authors.initials: A
authors.lastname: Gos
authors.forename: B
authors.initials: B
authors.lastname: Lamy
authors.forename: F
authors.initials: F
authors.lastname: Fellmann
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: E
authors.initials: E
authors.lastname: Plouvier
authors.forename: P
authors.initials: P
authors.lastname: Herve
authors.forename: P
authors.initials: P
authors.lastname: Tiberghien
mesh_terms: D002478:Cells, Cultured; D002648:Child; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D018392:Genomic Imprinting / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D008214:Lymphocytes; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D014178:Translocation, Genetic
chemical_list: D005819:Genetic Markers