title: NICHD conference. Robertsonian translocations: clues to imprinting.
abstract: Robertsonian translocations, occurring with a frequency of about 1 in 10,000 livebirths, may be an important cause of uniparental disomy as demonstrated for 13/15, 13/14, 14/14, and 22/22 translocations. Dysmorphogenesis and/or mental retardation provide clinical clues for uniparental disomy in apparently balanced offspring of translocation carriers. Research strategies for assessing frequency and implications of uniparental disomy in translocation carriers include a genetic register approach, study of abortuses from balanced translocation carriers, and parent-of-origin studies on de novo homologous Robertsonian translocations.
authors.affiliation: Regional Genetic Service, St. Mary's Hospital, Manchester, United Kingdom.
authors.forename: D
authors.initials: D
authors.lastname: Donnai
mesh_terms: D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002884:Chromosomes, Human, Pair 15; D002892:Chromosomes, Human, Pair 22; D006579:Heterozygote; D006801:Humans; D009316:National Institutes of Health (U.S.); D014178:Translocation, Genetic; D014481:United States