Morbilità e Mortalità nella Prole di 300 Coppie di Coniugi Consanguinei nel Comune di Firenze

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Abstract
Summary: A family investigation has been carried out on 301 consanguineous and the same number of nonconsanguineous couples, who married in Florence in the years 1939 through 1958. The sample turned out to be homogeneous as regards age of the couple, year of marriage, period of cohabitation, social level, and methods of survey.The average rate of consanguinity in Florence in the above years was of 0.458 × 10−3, with a decrease from 0.595 to 0.327 × 10−3 between the first and the second decade.While the number of pregnancies is not significantly different in the two groups, abortions are more frequent among blood relatives. As a result, the number of stillbirths being not significantly different, the birth rate is higher among the controls. Infant mortality is more than double in blood relatives. As regards morbidity, hereditary defects or anomalies show an average increase of 2.6 times in the offspring of blood relatives: the increase being higher for serious hereditary defects (3.44) than for lighter ones (1.98). The finding of slight delays in mental development was 4.8 times more frequent in the offspring of blood relatives.By applying Morton-Crow-Muller's formula, it was possible to calculate the A and B values, and to find out, in the observed population, the presence of 2.2-2.4 pathological gene equivalents per gamete as to early mortality (abortions + stillbirths + infant mortality); 1.6-1.7 gene equivalents as to hereditary defects in general; and 0.82-0.85 gene equivalents as to slight delays in mental development.