title: Non-Mendelian transmission in a human developmental disorder: split hand/split foot.
abstract: The study of Mendelian disorders that do not meet some Mendelian expectations has led to an increased understanding of such previously obscure genetic phenomena as anticipation. Split hand/split foot (SHSF), a human developmental malformation, demonstrates such distinctive genetic features as reduced penetrance and variable expressivity. In this study, new pedigrees with defined ascertainment confirm the existence of non-Mendelian transmission characterized by the overtransmission of SHSF from affected fathers to sons.
authors.affiliation: Department of Medicine, University of Washington, Seattle.
authors.forename: G P
authors.initials: GP
authors.lastname: Jarvik
authors.forename: M A
authors.initials: MA
authors.lastname: Patton
authors.forename: T
authors.initials: T
authors.lastname: Homfray
authors.forename: J P
authors.initials: JP
authors.lastname: Evans
mesh_terms: D005220:Fathers; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D009035:Mothers; D010375:Pedigree; D010641:Phenotype; D011336:Probability; D012727:Sex Characteristics