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J Med Genet. 1993 Feb;30(2):112-6.

On the genetics of mandibular prognathism: analysis of large European noble families.

Author information

1
Institut für Humangenetik und Anthropologie, University of Freiburg, Germany.

Abstract

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.

PMID:
8445614
PMCID:
PMC1016265
DOI:
10.1136/jmg.30.2.112
[Indexed for MEDLINE]
Free PMC Article

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