The authors trace an outline of the problems involved in the relationship between immunogenetics an reproductive pathology, indicating the need for further specific research.

The authors formulate a “central interpretation” of several aspects of immunology, based on the role assigned by nature to primary sensitization in the protection of germinal and fetal antigens against immunological rejection. The implications of such an interpretation may be far-reaching in such fields as reproductive pathology, autoimmune diseases, anthropology and population genetics.

The ability to secrete ABH antigen in the saliva has been determined in 160 men and 87 mothers with 45 boys and 42 girls. Mother-child studies on the secretor-nonsecretor distribution and Gc serum types showed a good agreement between observed and expected numbers in the different classes.

The malformative syndrome with cryptophthalmos is characterized by cryptophthalmos or congenital symblepharon of the upper lid, dyscephalia with malformations of the ears, nose and mouth, syndactylia, malformations of the urogenital organs and other less constant anomalies.

A research has been carried out on a sample of 29.309 Milan school children. Among them, 321 carriers of congenital aural fistula (FAC) have been found. Pedigrees could be drawn in 93 cases, covering three generations and including as collateral branches families of uncles and aunts. According to Smith's test (modified) the trait appears to be inherited as an autosomal dominant, with a penetrance of 85%. The phenotypical frequency (genetically controlled, i.e. excluding phenocopies) is of 1%, while the gene frequency may be estimated around 0.5%.

Chromosomal aneuploidy in individuals is very frequent, and is generally a sporadic occurrence. Some aneuploidies seem to be familial, however; that is, parents may have more than one aneuploid child, or they may come from families in which an agglomeration of aneuploidies is distributed over several generations. Since, in such instances, parents often seek eugenic counsel to learn their chances of having aneuploid children, four types of familial aneuploidy and their recurrence risks are described. Special emphasis is given to the more important types of familial interchange, for which the recurrence risks can be calculated with fair accuracy. Familial mosaicism, a rare and puzzling genetic entity with which aneuploidy seems definitely correlated, is discussed.

A family is described with heteromorphism of N. 16 chromosome pair. The abnormal submetacentric chromosome was found in a total of 8 family members. Seven out of these carriers show a variable degree of myopia.

Cytogenetic examinations of a 7/12-year-old girl and her parents revealed a familial G/G translocation.

46 chromosomes in the mitoses of the mongoloid child and only 45 chromosomes in those of the apparently normal father could be observed. The analysis of karyotypes revealed a balanced G/G translocation in the father and a G/G translocation mongolism in the probanda. Dermatoglyphic patterns of both the child and her father showed some features characteristic of Down's syndrome.

The mother's karyotype proved to be normal (46, XX).

Three clinically atypical cases of Down S. and cerebral idiocy are described, showing peculiar chromosomal deviations and of difficult diagnosis. One more case is described, partly showing Marfan S. symptomatology with a duplication of the satellite-region of a G-Chromosome. This chromosomal deviation appears to occur in the family, although with no clinical significance.