title: The frequencies of constitutional chromosome abnormalities in an apparently normal adult population.
abstract: Constitutional karyotypes were determined in 1405 apparently normal adults referred for population studies of acquired chromosome abnormalities in peripheral blood lymphocytes. A total of 7 translocations (4 reciprocal, 3 Robertsonian), 1 extra structurally abnormal chromosome, 2 47,XXY and 12 inv(9) were detected. An examination of previous population studies illustrates the importance of considering differences in the resolution of the chromosome analysis when comparing frequencies of abnormalities.
authors.affiliation: Genetics Unit, Geoffrey Schofield Laboratories, British Nuclear Fuels plc, Cumbria, UK.
authors.forename: E J
authors.initials: EJ
authors.lastname: Tawn
authors.forename: R
authors.initials: R
authors.lastname: Earl
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004784:Environmental Monitoring; D005260:Female; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000502:physiology*; D008297:Male; D016273:Occupational Exposure; D010375:Pedigree; D012016:Reference Values; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic