Jusqu'à nos jours, la connaissance de la population humaine est toujours résultée d'une double recherche, à savoir: la recherche bio-typologique, développée par l'anthropologie, et l'analyse mathématique de certaines données statistiques effectuée par la démographie.

Deux recherches, deux sciences, mais surtout deux niveaux de connaissance: en effet, bien que détachée du plan immédiat de la recherche physiologique, la démographie embrasse les aspects fonctionnels de l'espèce humaine, tels que la naissance, la mort, la fécondité, etc., alors que l'anthropologie est plus particulièrement une entreprise morphologique.

Il y a quelques années, les résultats somatiques de l'anthropologie, et les résultats dynamiques de la démographie, étaient en quelque sorte contaminés par le racisme. Le danger de cette contamination était d'autant plus grave qu'il concernait également des secteurs situés au dehors de la science, comme par exemple celui de la politique. En effet, sans même mentionner les conséquences pratiques dérivant des principes, le racisme a soulevé, du point de vue scientifique, une véritable confusion.

En ce qui concerne la population humaine, un niveau de connaissance, sérieux et nouveau, apparaît aujourd'hui sous les termes de «génétique de la population» ou «génétique démologique» ou «démogénétique»

From the whole of genealogical researches on the people of B., P. and Al. towns, we came to the following conclusions:

1) the monomeric recessive autosomal transmission of hydrophtalmos, with a high degree of penetration, has been confirmed;

2) a type of congenital cataract with monomeric recessive autosomal hereditary transmission, with a comparatively reduced degree of penetration, has been located;

3) in towns B. and P. affected lines of hydrophtalmos and congenital cataract have been located;

4) the first definite heterozygotes for hydrophtalmos in town B. and for hydrophtalmos and congenital cataract in town P. have been located: they date back to the first half of the 18th Century;

5) the date of hydiovariation's inception has been located at about two or three generations before, or around the middle of the 17th Century.

The Authors descrive a case of ten-year-old dizygotic triplets (two monozygotic males and one female) of which the dizygotic twins on concordantely affected by congenital alopecia acromo-trichosis and transverse palmar line.

The findings are connected with a double hereditary disease (epilepsy and another ailment of the nervous system) found in the triplet's family tree.

The Authors point out that in the literature this si the first reported case of concordant alopecia congenita on monozygotic twins and that the term congenital alopecia might be very well be changed into hereditary alopecia.

The statistics of twin births in Australia and Italy were examined and the frequencies within the two countries at different periods of time compared. There has been an increase in monovular twin frequencies in Australia over a period of 25 years in spite of an increasingly higher proportion of first maternities amongst total maternities and generally lower maternal age. The cause of the increase could not be ascertained because of insufficient information. The decrease in gross frequency which occurred in Italy was found to derive from the smaller number of maternities to women of high parity in recent years. The frequency of twin births to women of corresponding age and parity remained unaltered and differed only slightly from comparable groups of Australian women.

The Authors have studied two sibs, 20 and 6 years of age respectively, which show hereditary cheratosis of the palms and sales, with spots of cheratosis in other loci too, in addition to dental dystrophia and expulsive gingivitis.

From the genetical point of view the most important factor is that neither parent is affected by the condition which on the other hand is generally considered as dominant.

The Authors suppose that the morbid genotype comes from the father's side of the family tree.

1. A highly significant association exists between dark pigmentation and patterns in the second interdigital palmer area among populations of mixed Negro-White ancestry, both in northern Sudan and in the United States.

2. No significant associations were observed between pigmentation and ABO blood groups, tasting ability and pigmentation, blood groups and tasting ability, palm patterns and blood groups, or tasting ability and palm patterns.

3. The relatively high association between pigmentation and second-interdigital palmar patterns suggests linkage between some of the genes conditioning these two traits.

The results of studies on the heredity of the A-B-O groups in a new series of 426 families with 649 children are presented. No exceptions were encountered to the multiple allele theory of heredity of the A-B-O groups and subgroups of A. During the period 1929 to 1952, a total of 1590 families with 3398 children have been tested for the A-B-O groups and only two contradictions to the Bernstein theory of inheritance were encountered, both apparently due to illegitimacy. Statistical analysis reveals a satisfactory agreement between the observed frequencies of blood groups in the children and those predicted under the theory of multiple alleles. While the A-B-O groups are reliable for medicolegal application in cases of disputed parentage, the subgroups of A should not be applied in such cases. The reason for this is that it has been impossible up to now to prepare anti-A1 reagents of satisfactory titer, avidity, and specificity, comparable to anti-A and anti-B reagents which are available. As a result, subgrouping tests, particularly of newborn babies, do not give entirely reliable results.

In the course of study and publication of various aspects of natality and birth statistics, the writer has had occasion to unearth and compile the reports and records of quintuplet and sextuplet births which have occurred in the United States. Seventeen cases of such quintuplet births have been found, mostly well attested; and five of sextuplets, two well attested and three not completely verified.

The source, character, and reliability of the information on which the records of quintuple and other high multiple births are based are matters for careful consideration and evaluation.

Of the 17 quintuplet cases here reported 12 may be accepted as well verified: either on the authority of the attending physicians by their reports published in medical journals, by formal certification of the births to public registries of vital statistics, and statements obtained by personal correspondence. Most of the cases were reported in the newspapers; but such accounts, especially of local and contemporary cases, publicised by responsible newspapers and news-gathering agencies, may usually with due discrimination be accepted as quite reliable, especially when substantiated by photographs or verifiable from other sources. The information concerning one case is derived from a newspaper account which there is no reason to question; two of the cases (1826) were reported in a high-class newspaper nearly a year later from the physician's old records; one news story is quite hearsay in character; and one case is based on family statements lacking in specific details.

The case is described of monozygotic twins similarly affected with a form of cerebellar atrophy characterized by primary lesions of the granular layer. The clinical and pathologic aspects of the disease are briefly discussed and the role of genetic factors in the determination of the condition emphasized.

1. Il problema dell'influenza che le condizioni ambientali esercitano sugli esseri viventi è sempre attuale — e non soltanto in biologia — come dimostra la continua apparizione di opere dedicate all'argomento.

In campo biologico tali studi si sono rivolti particolarmente al tema dell'adattamento funzionale, con risultati di innegabile portata. Non altrettanto soddisfacenti si possono ritenere quelli riguardanti l'adattamento strutturale, in quanto il moderno sviluppo della genetica aveva portato a considerare del tutto priva di fondamento la teoria lamarckiana dell'ereditarietà dei caratteri acquisiti, nonostante le evidenti difficoltà logiche incontrate nel giustificare — pur facendo appello al meccanismo mutazionistico — l'evoluzione della specie.

Un largo processo di revisione di tale atteggiamento sembra oggi in corso, da una parte perché più frequenti si sono fatti i richiami alle questioni di ordine generale e dal-l'altra per l'affiorare, attraverso la sperimentazione, di fatti nuovi i quali hanno indotto a giudicare i fenomeni ereditari molto più complessi di quanto non potevano apparire a prima vista.

Non sembra, quindi, fuor di luogo un rapido esame dei punti fondamentali del problema, alla luce di teorie antiche e recenti e dei più significativi risultati delle ricerche sperimentali postbelliche.

2. Un sistema isolato, se è teoricamente concepibile, non trova effettivo riscontro in natura. Ogni sistema reale appare, infatti, in relazione più o meno stretta con altri sistemi e la sua conservazione dipende, in ogni momento, dal mantenimento di una certa armonia con questi.

1. Description of an identical, concordant, deaf mute twin suffering from a perceptive deafness. In the family there occurs no more deafness, on the other hand there are many twins, both M T and D T among their relatives.

2. Description of an identical, concordant, “hearing mute” twin. Up to their eigth year they did not talk at all, they learned speaking when they made their entrance into the Institute for deaf-mutes. They are feebleminded. A brother speaks badly and is slow in intellect too, three cousins of their mother were idiotic.

The Author reports a case of xifodimus tetrabrachius born in March, 1954, in the Hospital at Vipiteno (Italy) and, in the discussion, points out the improvement the case can bring about in the knowledge of double faetal malformations, their classification, their causes and their mechanism.

The mother had had a previous case of twin pregnancy.

The suitability and reliability of the Rh-Antigens is being discussed in details in the light of a great number of forensic serologic tests carried out in our Institute in cases of discussed parentage (859 contracting parties, 1251 males involved).

The frequency of paternity exclusions observed does greatly conform with the frequency expected. Differences noted are either very small or are in the range of standard deviation.

Authors emphasize that it is necessary to repeat the test especially if a criminal case is concerned or if an accused father can be excluded.

Data of 986 twins from the records of the Clinica Ostetrica of the University of Rome have been analysed as regards the distributions, means and standard deviations of mother's age, order of birth, birth weight and length of gestation time in groups of like and unlike sex.

The chief characteristic of these data compared with similar data from English hospitals is the inclusion of cases of low birth weight and short gestation time. In the English data there are 9 cases out of 1137 of the group of weight under 680 g; in the present data there are 57 out of 1942 which fall into the lowest group under 500 g.

Similarly in length of gestation the English data have only 2 cases out of 926 under 170 days compared with 33 of the Italian out of 945.

The correlations between twin weights are respectively .8030 for like sex and .7604 for unlike sex; for weight and gestation period they are .3814 (like sex) and .3606 (unlike sex).

The regression of weight on length of gestation runs as a smooth curve in accordance with previous findings. The mean weights for given gestation times are about the same as, or a little higher than, those for the English data.

I am greatly indebted to Dr. Norma McArthur for giving me a copy of these data.

Già da tempo il sangue dei gemelli è stato studiato dal punto di vista biometrico ed in particolare dal punto di vista eritrocitometrico (Glatzel 1931, Ostertag 1935).

Siamo tornati sull'argomento délla comparazione delle misure eritrocitometriche di coppie di gemelli perché convinti della grande importanza teorica e pratica di questo studio, tanto dal punto di vista strettamente genetico, quanto dal punto di vista medico, dati i ben noti vantaggi del metodo comparativo gemellare.

Le misurazioni vennero eseguite con un microscopio universale Galileo, direttamente sull'immagine reale proiettata su di uno schermo di vetro smerigliato 16 × 18. L'obbiettivo impiegato fu un 99 × e il tiraggio dello specchio proiettore venne aggiustato fino ad ottenere i 2000 ingrandimenti esatti, tarati con un vetrino micrometrico. I preparati furono dei comuni strisci a strato rigorosamente monoglobulare, colorati con May-Grunwald-Giemsa. La colorazione venne spinta un poco oltre i tempi comunemente usati, per ottenere una maggiore nitidezza di contorni nella proiezione dei globuli rossi.

Le misurazioni vennero direttamente eseguite sulla lastra di vetro smerigliato, mediante un regolo millimetrato trasparente.

Con detta tecnica, risultando un micron delle dimensioni di 2 millimetri, riescì esatta la misurazione di mezzo micron e discretamente approssimata quella del quarto di micron.

1. Investigations carried out on twins and the families have revealed that within the major group of brain gliomatosis and glioblastomatosis there is a minor group (up to day) of accumulated familiar clinical cases.

Topographically, they are tumours localized in the region of the ventricular germinative centres, that is to say, in the background of the brain (they are not cortical gliomas!). They depend on the disturbances and inhibition of the matricial cellules on the ventricular wall towards the cerebral cortex. Histologically they are considered as dysplasias with a blastomatosis character, that is to say, neoplastological productions on an heredogenetic basis the cause of which lies in histological disorders, disontoge-netic, and therefore, congenital.

2. A work hypothesis is settled and established according to wich 2 factors at least are necessary for the formation of a tumour: a local one, hereditary: the neuroglial dyplasia in the region of the ventricular germinal centres with a tendency to tumours degeneration; and another or several general factors dependent on endogenous and exogenous influences, which on account of a disturbance of the general constitution (for example, hormone mechanisms of puberty, of the premenopause and of the beginning of the involution) which would allow the tumour to develop starting with the tumours genetic disposition.

3. At the present time it is not known whether the genesis causing this neuroglial dyplasia and the concomitant malformations of other organs, sonsists in the mutation of a gen, since so far the gen is ignored as well the pleotropic effet of the action developed by the gen.

4. The fact, that within the major group, in the majority of cases evidently not hereditary of gliomatosis and glioblastomatosis, there should appear a minor group, hereditary, must be considered, within the general investigation of the neoplasias, as a further proof that the essential thing of the hereditary predisposition to the development of tumours, must be considered as a specific local factor.

5. The attention is called to the possible existence, within the astrocytomes of a small hereditary group of familial cases.

6. The casuistry so far known has been enlarged with 20 cases (discordant) of twins and 6 observation in families which were compiled at the Neurological Clinic of Miinster Westfalen University.

We researched a total number of 3974 persons for the frequency of simian lines and all the material is based on 375 monozygotic, 360 dizygotic, 226 twins of different sex and 2045 single persons of two groups of the population. We classified the material collected into three degrees of impress of the simian line: a little form « 3 », a middle form « 2 » and the classical simian line, called form « 1 ». The form « 3 », which was more frequent to be seen than the form « 1 » and « 2 » seems to contain characteristics of « accidental » genesis without any relation to classical simian lines. That was to be found especially in the case that the little form was only on the surface of one hand. In contrast to that the form on both hands allows the deduction, that there must exist a relation to simian lines. The relations between the forms « 1 » and « 2 » are more evident than these of the little form « 3 ».

The classical simian line seems to be more frequent on the left hand and with the male sex than on the right hand and with the female sex. This picture is a counterpart to the behaviour of thenar patterns.

The result of the average population ist applicable to twins, too. Furthermore it was possible to show by arithmetic, that the concordant reactions of the monozygotics and the discordant reactions of the dizygotics are based on the hereditary character of simian lines and their transitional forms. There is a remarcable difference between monozygotic and dizygotic which is caused by the fact, that discordance of monozygotic is to be found in the case that one partner is one-sided affected with. Moreover the discordant forms become less frequent, if the degree of impress increases. The dizygotics are in the inverse ratio.

The absolute concordance, too, that means the same degree of impress on the same hands of both partners, is more frequently to be found in the case of monozygotic than in the case of dizygotic.

Heberden's nodes or osteoarthritis of the finger joints are described in two identical twins. The appearance of the hands and the bone changes in individual joints as shown by radiographs are remarkably alike. That the twins are identical is indicated by agreement of eye color, hair on the fingers, tasting of phenylthiocarbamide and of 8 blood groups. Evidence of a tendency to mirror imaging in the distribution of the disease among the fingers is seen.

Osteoarthritis of the fingers occurs in these cases in the apparent absence of manifestations of osteoarthritis in other joints. Heberden's nodes is an hereditary disease but this seems to be the first description published of its occurrence in twins.

The symbols for trie 4 allelic M-N-S genes in common use, namely, MS, Ms, NS, and Ns, are satisfactory only if one subscribes to the theory of linked gene couplets, but not for those who, like the present author, believe that the theory of multiple alleles is valid. Therefore, it is proposed to designate the 4 allelic genes by the symbols Ls, L ls and l, respectively. These symbols are easy to learn and to use, if one bears in mind that L stands for the presence of blood factor M in the corresponding agglutinogen, and l for the presence of blood factor N. Similarly the letter S in the superscript stands for the presence of blood factor S in the corresponding agglutinogen, while the absence of any superscript denotes the presence of blood factor s. It is unnecessary to change the names of the phenotypes. This is fortunate, since duplication of nomenclature is avoided, such as exists unnecessarily in the case of the Rh-Hr types. The purpose of a phenotype name is to identify and not to provide a full description, or to indicate the genetic mechanism. For this reason, the phenotype designations of the M-N-S types should be the same, regardless of the genetic theory to which one subscribes.

The practicability of the new gene symbols for the M-N-S types is demonstrated by applying them to a sample mating. A simple method of estimating the frequencies of the 4 allelic M-N-S genes is also described. These formulae are applied to Boyd's data on the distribution of the M-N-S types among 230 Bengalis. The results obtained do not differ significantly from those obtained by the more complex maximum likelihood method. Since the maximum likelihood method does not improve the accuracy of the estimates, the additional effort and skill which is required are wasted. The simple formulae proposed here yield results which fulfill all the requirements of anthropologists and geneticists.