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J Pinto-Cisternas

Publications and source records attributed to J Pinto-Cisternas.

At least 19 recordsLinked to original sources
PubMed1991

Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.

We describe 27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isolated and inbred population with very small neighbouring communities from a Caribbean Sea island, Margarita Island, in Northeastern Venezuela (Nueva Esparta State). The clinical picture common to all patients could not be classified within the heterogeneous group of known ectodermal dysplasias and the published cases do not resemble our patients. We believe that this condition constitutes a newly recognized autosomal recessive dysplasia/malformation syndrome of ectodermal dysplasia.

Adolescent↗
PubMed1990

Inbreeding as measured by isonymy in two Venezuelan populations and its relationship to other variables.

Isonymy is a useful approach to the study of population structure and thus can be utilized to detect deviations from random mating. In this study we give the results of an analysis of inbreeding levels and relate such variables as mean marital distance, surnames repeated in isonymous couples, and percentage of people using only maternal surnames to inbreeding and endogamy in two Venezuelan populations of black ancestry, Birongo and La Sabana. These populations differ in their sociocultural development and degree of isolation. We estimated inbreeding through isonymy and directly from genealogy. The most important findings are that the Ft values are higher than the a's, that the Fn component of Ft is higher than the Fr component, and that there is higher endogamy, inbreeding, and isolation in Birongo than in La Sabana. These results are in agreement with the sociocultural and historical background and development of each population. Nevertheless, both populations show similar temporal trends in almost all the variables analyzed. The use of isonymy as a complementary tool to study population structure is proposed, especially for Ibero-American populations.

Consanguinity↗
PubMed1990

Comparison of two Venezuelan populations using the coefficient of relationship by isonymy.

The coefficient of relationship by isonymy Ri is a good indicator of similarities between and within populations by means of identity of surnames. In this study we present the results of an analysis of Ri obtained using two surnames for each person in two small Venezuelan populations of African origin: Birongo and La Sabana. The analyses of six Ri values within each population in two periods and of sixteen Ri values within each population between two periods and within each period between populations show that the higher values of Ri are those that include combinations of maternal surnames compared with any other combination and that in one period the relationship between Birongo and La Sabana was equal to 0, as measured with combinations of paternal surnames. These facts are indicators of a tendency toward matrifocal behavior and show that the use of four surnames for estimating Ri permits detailed comparisons of the relationship between and within groups.

Africa↗
PubMed1986

Torus palatinus: a segregation analysis.

Segregation analysis of 99 sibships in 2 samples from Venezuela and Japan indicates that a torus palatinus is inherited in simple dominant fashion. The gene shows variable expressivity and penetrance close to 85%, without significant heterogeneity between the populations considered. No evidence of sporadic cases has been found.

Gene Frequency↗
PubMed1985

Estimation of inbreeding by isonymy in Iberoamerican populations: an extension of the method of Crow and Mange.

The method of isonymy for the estimation of inbreeding levels was extended to use the potentialities offered by the Iberoamerican surname system, in which a child inherits his surnames both from the father and the mother. Four possible types of isonymy were recognized between the family names of a husband-wife pair. It was found that, limited to simple consanguinity, the ratio between isonymy and the inbreeding coefficient of consanguineous individuals, starting from first cousins, is constant and equal to 16. Consanguinity levels were studied in four Venezuelan groups, Isla de Toas, Los Teques, Quibor, and Colonia Tovar, using genealogies, classical isonymy, and the extended method. It was found that, for Iberoamerican populations, the extended method is more precise than the classical method.

Consanguinity↗