1993/02/01 by G. Wolff, T. F. Wienker, H.H. Sander · 4 citations
Immunology and Microbiology · Medicine · #Immunodeficiency and Autoimmune Disorders #Autoimmune and Inflammatory Disorders Research #Osteomyelitis and Bone Disorders Research #Penetrance #Mandibular prognathism #Genetics #Biology #Trait #Prognathism #Major gene #Phenotype #Evolutionary biology #Orthodontics #Gene #Medicine #Computer science
paper · pdf · doi:10.1136/jmg.30.2.112
openalex publication_date 1993/02/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/06/26
Mandibular prognathism is assumed to be a polygenic trait in the vast majority of cases. In a few families, this phenotype and perhaps a syndrome with a broader spectrum of facial anomalies seems to be determined by a single dominant gene of very low frequency (McKusick No *176700). The phenotype is known to have occurred independently in several European noble families. We constructed a pedigree comprising 13 of these families with 409 members in 23 generations in which mandibular prognathism has been segregating. Obviously, the presumed dominant gene is not fully penetrant in the heterozygous state. Pedigree analysis using the Elston-Stewart algorithm yields a maximum likelihood estimate (MLE) of p = 0.955 (SE 0.038) of the penetrance parameter.