title: Inconsistencies in pedigree symbols in human genetics publications: a need for standardization.
abstract: To determine consistency in usage of pedigree symbols by genetics professionals, we reviewed pedigrees printed in 10 human genetic and medical journals and 24 medical genetics textbooks. We found no consistent symbolization for common situations such as pregnancy, spontaneous abortion, death, or test results. Inconsistency in pedigree design can create difficulties in the interpretation of family studies and detract from the pedigree's basic strength of simple and accurate communication of medical information. We recommend the development of standard pedigree symbols, and their incorporation into genetic publications, professional genetics training programs, pedigree software programs, and genetic board examinations.
authors.affiliation: Department of Pediatrics, University of California at Irvine, Orange 92613-1491, USA.
authors.forename: K A
authors.initials: KA
authors.lastname: Steinhaus
authors.forename: R L
authors.initials: RL
authors.lastname: Bennett
authors.forename: R G
authors.initials: RG
authors.lastname: Resta
authors.forename: S B
authors.initials: SB
authors.lastname: Uhrich
authors.forename: D L
authors.initials: DL
authors.lastname: Doyle
authors.forename: D S
authors.initials: DS
authors.lastname: Markel
authors.forename: V A
authors.initials: VA
authors.lastname: Vincent
mesh_terms: D005826:Genetics, Medical / Q000592:standards*; D006801:Humans; D010375:Pedigree; D011643:Publishing / Q000592:standards*