title: Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus.
abstract: Transient neonatal diabetes mellitus occurs in growth-retarded infants, has an incidence of 1 in 400000 live births and has been associated with both paternal uniparental disomy of chromosome 6 and paternal duplications of 6q. We analysed samples from our cohort of patients with transient neonatal diabetes mellitus for uniparental disomy of chromosome 6 using polymorphic microsatellite repeat analysis. We report here the fifth case of paternal uniparental disomy of chromosome 6 associated with classic transient neonatal diabetes mellitus and estimate that uniparental disomy of chromosome 6 accounts for approximately one fifth of cases of transient neonatal diabetes mellitus.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
authors.forename: R J
authors.initials: RJ
authors.lastname: Gardner
authors.forename: D O
authors.initials: DO
authors.lastname: Robinson
authors.forename: L
authors.initials: L
authors.lastname: Lamont
authors.forename: J P
authors.initials: JP
authors.lastname: Shield
authors.forename: I K
authors.initials: IK
authors.lastname: Temple
mesh_terms: D002896:Chromosomes, Human, Pair 6; D003920:Diabetes Mellitus / Q000235:genetics*; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D011247:Pregnancy