The phenomenon of life, in its individual and collective expressions, develops through a sequence of times resulting from the interference of biological with physical time. While physical time is uniform, the biological one differs from one individual to the other, except for MZ twins.

The problem of biological time has been studied in physiology and informational genetics from the viewpoint of its succession of single times, although irrespective of the individual variability in their duration. This variability has already been shown by the authors to be hereditary, its inheritance being directly connected with the hereditary unit.

Biological time corresponds to the duration of degradation (“chronon”) of the energy of stability (“ergon”) possessed by the gene and, by extension, to the total chronon of the genotypes underlying a given structure or function. Ergon and chronon are correlated index values, thereby constituting a system (“E/C system”).

The individual variability of biological time depends on the A-T/G-G ratio in the DNA molecule, on the different amount of genie redundancy and on the different possibilities of repair of corresponding genes. The variability of these or possibly other causal factors determines the stability with respect to the environment in which the information operates, and especially to mutagenic agents.

The authors apply the E/C model to epidemiologic data concerning diabetes, lupus erythematosus, and peptic ulcer, and verify the consistency of the experimental data with the theoretical model.

Nine family cases of diabetes are genetically interpreted on account of a polygenic model of inheritance, with each allele being characterized by a different probability of chronological stability of the normal information. This model provides a satisfactory interpretation of the clinical and subclinical variability of diabetes — which the diallelic model is unable to do — and has on the polygenic model the advantage of a higher fitness to a case of discontinuous variability, such as diabetes. Both pedigrees characterized by apparent recessive inheritance and those characterized by apparent dominant one may equally be interpreted on account of the polyallelic model.

The origin of polyallelism is attributed to the hereditary variability of the gene's temporal unit (chronon). As a result, the phenomenon of “anticipation” may also be interpreted, and the one-origin clinical and sub-clinical variability of diabetes be demonstrated.

Inbreeding effect revealed as mortality and morbidity in general may be ascribed to deleterious mutations generally present at different loci of the ancestors common to each consanguineous mating. A new coefficient (E) is suggested to measure this effect. On the basis of this theory, a new method to estimate the load of mutations disclosed by inbreeding has been presented elsewhere, and is now extended. In this method, the load is estimated without introducing gene frequency notions. Genetic loads estimated through our method are in rather close agreement to those estimated through the classical theory of Morton, Crow and Muller (MCM).

The frequency of twins and triplets was significantly higher than expected among 56 patients with Klinefelter's syndrome (7.1%), compared with 1.58% in the population (P<0.001), and the frequency of multiple births in the 56 sibships (4.08%) was also significantly higher than expected (P<0.01).

One of 15 patients with the XYY syndrome was a twin, and there were 2 twin births among the 53 births in the 15 sibships.

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.

A review of 15 chromosomally abnormal twin pairs indicates that finger and hallucal patterns of the affected twin are more similar to other patients than to the normal cotwin.

Correlation coefficients of TFRC and atd angle differences tend to remain similar in spite of the presence of chromosome abnormality in the cotwin. This supports the use of dermatoglyphic analysis as a means for diagnosing twin zygosity. Correlation coefficients of intrapair TFRC and atd angle differences in 25 control MZ twin pairs shows good agreement in zygosity determinations, when compared to results obtained by blood group and clinical observation studies.

In a series of 155 female and 142 male MZ twin pairs, TFRC and atd angle differences plotted on a graph against the frequency of occurrence illustrate that the range of variation is greater among females. Further study of a large series of twin pairs, however, is necessary to determine whether this is an effect of lyonization or the alteration of the polygenic complex of dermal configuration by the X chromosome.

The palm prints of a 2A,XY/3A,XXY patient displayed a scarcity of patterns and a wider than normal atd angle. Both hands had typical four-finger lines. The digits of the right hand had radial loops on II, III and V.

Sera from 50 mothers of G1-trisomy affected children and from 50 age-matched mothers, whose offspring included no chromosomal-aneuploidy affected children, were tested for presence of antinuclear antibody factors and nuclear staining with human squamous epithelium and with mouse liver. Consistently, more of the mothers of G1-trisomy affected children included positive findings in both tests, compared to the age-matched mothers.

That personage on horseback dominating the piazza of the Capitol, were he alive and not a bronze statue, would I think be very happy about this Symposium now opening.

I may even imagine that Marcus Aurelius would leave his role of sceptical emperor-philosopher to assume that of paterfamilias, smiling benignly upon us all, as he was the father of twins: Commodus, emperor after him, and Antonius Geminus.

He had a special medal struck, when these twins were born to him by Faustina, bearing her image and that of Juno Lucina, goddess of fertility. He then had six children, and Faustina was to bear him seven more — quite a large family, as is often the case when there are twins.

Yes, I am sure that Marcus Aurelius would rejoice at the opening today in Rome of this first Symposium of twin researchers, their object being not only to know twin better, but also to assist them, and because the Symposium is the first, the beginning, we hope, of a series of many more most fruitful ones.

This note describes the dermatoglyphic disturbances verified in two patients with a very complex and highly mutilating syndrome. The parents of the affected individuals present, however, normal dermatoglyphics.

A kindred is described with a probably new inherited syndrome, involving bilateral congenital hip dysplasia with coxa vara, patella aplasia and tarsal synostosis. This association is probably inherited as an incomplete dominant trait, apparently as a result of a new mutation.

In this case a single pleiotropic gene might be held responsible for the multiple skeletal defects.

From a bibliographical review, it may be concluded that the nosological association of these multiple defects has never been published so far.

A case of OFD syndrome in a male is reported. The clinical features are described in detail. The genetical aspects of the syndrome are discussed on the basis of the analysis of 33 families from the recent literature. It appears that in the great majority of the cases so far known, the syndrome is due to a dominant probably X-linked gene, lethal in males and with complete penetrance in females. Of all cases 24% are sporadic. It seems likely that a few cases are due to a recessive autosomal gene. It is concluded that the reported patient is, with high probability, either a mutant or a case with hereditary recessive pattern.

This report is concerned with the twin births which occurred in the Collaborative Study of Cerebral Palsy, Mental Retardation and Other Neurological and Sensory Disorders of Infancy and Childhood. This is a collaborative endeavor of 14 institutions throughout the US and the National Institute of Neurological Diseases and Stroke, to observe and study factors which affect the parents before a child is born and to relate them to the outcome of pregnancy. To this end, we are following approximately 60 000 pregnant women from the first months of their pregnancy, through labor and delivery and up to the seventh year of the study child's life. The Study population is about 46% White, 46% Negro, 7% Puerto Rican, and the rest a variety of other ethnic groups. The prospective nature of the study makes possible the recording of observations with high accuracy and the avoidance of biases inherent in other types of investigations. These advantages should also be reflected in the collection and evaluation of twin data.

The authors present the case of a 42 years old hermaphrodite, showing bilateral ambigonadism with female nuclear sex and 46,XX karyotype. The psychological analysis reveals a female personality, which is in contrast with the male civil status: hence, a source of frustration and social inadaptation.

Nella consulenza eugenica, il metodo formale, fondato sull'esame dei rapporti mendeliani attesi in funzione del tipo di trasmissione del carattere, dovrebbe essere la norma, ma le limitate conoscenze di genetica umana e medica lo rendono inapplicabile per la maggior parte dei casi.

È necessario, quindi, ricorrere al pronostico empirico per poter soddisfare alle domande che vengono rivolte al consulente eugenico. Tra le domande che più spesso ricorrono vi è quella posta dalle madri di gemelli per conoscere quale probabilità esse hanno di un novello evento gemellare nei loro concepimenti.

Per dare una risposta a questo interrogativo e chiarire contemporaneamente il quesito che, anche se più raramente, viene posto da madri, esse Stesse gemelle, su quale sia la probabilità di avere figli gemelli, abbiamo predisposto due diversi rilevamenti tra le oltre 14000 schede della gemelloteca dell'Istituto Mendel di Roma.

Il primo rilevamento, limitato a 2000 schede contenenti alberi genealogici con dati certi, ha dato come risultato un numero di genitori di gemelli, anch'essi gemelli, di 58; cioè, di 58 su 4000 genitori complessivi.

The case of a 13-year-old boy with Mediterranean disease, hypogammaglobulinemia and XYY sex-chromosome constitution is presented. The somatic cells contained 47 chromosomes. No chromosomal abnormalities were found in the parents and in the brother. The findings are discussed in relation to the previously reported cases of XYY males.