[Orbital neoformation 32 years after enucleation].
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Biomedical subjects
Publications and source records attributed to D Salmon.
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A p phenotype was discovered in a Tunisian woman and in three of her seven children. This paradoxical result challenges the known hypotheses on this phenotype, which generally recognise that it is determined by the existence of a very rare allele in a double dose. The computation of the coefficient of inbreeding of these subjects showed that repeated intermarriages increased the coefficient of kinship of the propositus and her husband to 0.116 (if unknown women of the ancestry were assumed to be different for each child) through 0,1362 (if unknown women of the ancestry were assumed to be the same for sibs). Therefore inbreeding was proved to be so high as to induce the presence of a recessively defined phenotype in two successive generations. Moreover, the search for probability of origin of genes of the last generation showed that the BCH ancestor was probably the carrier of the p allele.
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The knowledge of human polymorphism provides aid to the decision for the diagnosis parenthood. This work gives an algorithm of paternity diagnosis on a (presumed father, mother, child) triplet: the program verifies the logical relationships and calculates several indices used to estimate the likelihood of non-exclusion. We propose to attach greater importance to a neglected index: the percentage of subjects for which the paternity is excluded for the doublet (Mother, Child). Finally, we determine the most efficient and most economical sequence for the sequential use of genetic markers.
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Two different indices are of interest in paternity diagnosis. 1. The proportion of men whose paternity is excluded by mother and child phenotypes. 2. The posterior probability of paternity, obtained by a bayesian process from the phenotypes of putative father, mother and child. These two indices are different, and it is proposed that the first one be used for gauging the value of the second. Two examples of the method are given: first, a sample of 48 putative father-mother-child trios, observed in the probability of paternity versus proportion of excluded men plane at different steps on the laboratory examinations, second, the figure obtained for a child for whom two putative fathers were at examination.
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We surveyed a French male population for the incidence of missing or reduced upper lateral incisors (ULI). In 5,738 subjects, we observed an incidence of 1.59% with one or two reduced ULI (the other normal) and 1.90% with one or two missing ULI (the other normal or reduced), altogether, 3.49% affected subjects. Furthermore, 250 random controls were observed. Agenesis of other teeth is more frequent in propositi. Missing thir molars were 12.4% in controls, 24.0% in propositi with reduced ULI and 39.6% in propositi with two missing ULI. Furthermore, agenesis of incisors, canines and premolars ranges from 0.4% in controls to 1.3% in propositi having reduced ULI and 5.0% in propositi with two missing ULI. So, propositi with reduced ULI are intermediate between the controls and the propositi with missing ULI with respect to the freeuency of agenesis of other teeth. On the other hand, a different ranking is observed with respect to the teeth measurements: reduction of tooth size is more marked in propositi with reduced ULI than in propositi with missing ULI. The reduction mainly affects canines, incisors and to a lesser degree, premolars. Arch length and interpremolar diameters are smaller in propositi with missing ULI, compared with controls.
The survey of a French male population allowed us to ascertain 75 propositi with one or two missing ULI, 59 propositi with one or two reduced ULI and 99 controls on whom measurements (mesiodistal and buccolingual diameters) of all of teeth of the superior arch are available. Principal Component Analysis gave a first estimated principal component highly correlated with each of the dental measurements of arch measurements. This size factor was eliminated by observing the plane of the second and third principal components. Strikingly different clusters of MD diameters or BL diameters were observed for the controls, the propositi missing one or two fo the ULI and the propositi with reduced ULI. For the controls, the arch length is correlated with the MD molar diameters and the MD incisor diameter, the arch width being isolated from the other measurements. For the propositi with missing ULI, among the dental measurements the MD and BL diameters cluster, the arch length is isolated as are the arch widths. For the propositi with reduced ULI, the rich length is closer to the dental measurements while the widths, especially the first one, are isolated. The best discriminant measurements are the diameters of the first premolars and the canine, the first arch width and the arch length. Among controls, the arch is narrowed and shorter for the propositi with absence and wider for the propositi with reduction. Teeth measurements are always smaller in propositi.
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