title: A paternity case with three genetic incompatibilities between father and child due to maternal uniparental disomy 21 and a mutation at the Y chromosome.
abstract: A parentage case is described that revealed a potentially erroneous exclusion from paternity in three systems, two on chromosome 21 and one on chromosome Y. Follow-up tests, especially of chromosome 21, were subsequently performed. Actually, the child's chromosome 21 showed alleles of maternal but not of paternal origin being consistent with a maternal uniparental disomy of chromosome 21. The third genetic incompatibility was observed at the Y chromosome and attributed to a usual one-step de novo mutation. This case is emphasizing the (generally adopted) requirement that an exclusion from paternity must not be based on the absence of paternal alleles at genetic systems all located on the same chromosome. In fact, the need for extended typing programmes is demonstrated.
authors.affiliation: Institut National de la Transfusion Sanguine, Paris, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Mansuet-Lupo
authors.forename: Jurgen
authors.initials: J
authors.lastname: Henke
authors.forename: Lotte
authors.initials: L
authors.lastname: Henke
authors.forename: Cornelia
authors.initials: C
authors.lastname: Blank
authors.forename: Anette
authors.initials: A
authors.lastname: Ernsting
authors.forename: Peter
authors.initials: P
authors.lastname: Kozlowski
authors.forename: Philippe
authors.initials: P
authors.lastname: Rouger
authors.forename: Veronique
authors.initials: V
authors.lastname: Van Huffel
mesh_terms: D002648:Child; D002891:Chromosomes, Human, Pair 21; D041322:Chromosomes, Human, Y; D005220:Fathers; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D010334:Paternity; D024182:Uniparental Disomy