The Authors have found a remarkble frequency (8,8%) of microcytemia in a rural community so far unknown in the poulation study of this disease.

On the occasion of the inauguration of the courses of Medical Genetics in the Italian Universities, the Author describes how this new branch of science has developed in other countries, shows the limits of its action, in the sense that it aims to integrating clinical medicine and not to substituting it. Finally, the Author indicates how Medical Genetics has to develop from both scientific and professional standpoints.

The Authors have studied the blood iron level in 94 twins (23 MZ and 24 DZ pairs) aged from 6 to 14 years.

Through the determination of the blood iron level a mean value of 45,59 mgs per 100 cc. of blood has been established. This value corresponds to that of single-born children of the same age; thus, the anemia ferri priva observed by Woodruff in twins during the first year of age may not apply to ensuing ages.

The comparison of the blood iron level at the ages taken into consideration has shown a slights progressive lowering of the blood iron, which the Authors consider physiological. The comparison of the blood iron level between MZ and DZ twin-pairs has not revealed a significantly different behavior. The twin test appears thus to demonstrate that the blood iron level is not genotypically determined, but is environment-conditioned, generally through thermic and gaseous exchanges between the organism and the environment in which it lives.

The Authors have studied, from the standpoint of population genetics, twins born in the Aosta Valley from 1910 to 1957. This material, consisting in 980 pairs, has been examined from the standpoint of the frequency ot twin deliveries (Gemelliparity Index), of monozygosity (Monozygosity Index), and of patronymic (Patronymic Index). The Authors show that the region may be divided in geo-demographical departments, 6 of which may be considered « isolates » with a high rate of inbreeding. Moreover, the usefulness of the twin-method in population genetics is demonstrated.

The Authors have studied a pair of MZ twins, both affected with ocular albinism, two boys—probably consanguineous—also affected with ocular albinism, a DZ opposite—sexed twin—pair with the male twin affected with ocular albinism and many relatives affected with localized or generalized pigment anomalies, and the female MZ twin-pair concordant as to total albinism, already described by Hanhart.

The Autors criticise current classifications of hereditary albinism which do not accord themselves with the samples and which do not explain the phenogenesis of the disease. They suggest to classify the hereditary forms of albinism in two fundamental classes. In the first one would be included the cases of total and non-total albinism depending on an enzymopathy which alters the normal melanogenesis. In the second one would be included the cases in which the specific enzymes, tough normally present, encounter some local causes enhibiting their action. Cases nos. I and II of the present work would belong to the first class, while cases nos. III and IV would belong to the second one.

Another family in the Åland archipelago (Fennoscandia) suffering from a hemorrhagic disorder (von Willebrand-Jürgens' disease, heredi tary constitutional thrombopathie) is described. This family, so far the largest in the literature, has many common ancestors with the original bleeder families on Åland described in 1926 by v. Willebrand. Of the more than 1300 kindred traced genealogically, 132 (71 women and 61 men) in the five most recent generations have had manifest bleeding disorders in their medical history. Of the ca. 450 living relatives of this family 211 could be examined, and of these 56 females and 50 males were confirmed to be bleeders anamnestically, clinically or, and hematologically. Several cases were analysed exhaustively by modern coagulation tests. The clinical and laboratory hemostatic findings varied widely both inter- and intra-individually. Some patients showed a partial lack of a plasma factor (AHG) coupled with a qualitative platelet defect. Other patients of this family without bleeding disorders had a markedly prolonged bleeding time. The vascular disturbances also vary widely. The consanguinity in this pedigree is unusually high. The autosomal recessive in heritance are discussed. According to the mendelian segregation ratio, a not sex-linked, dominant transmission of the hemmorrhagic diathesis was in question. I has been possible to observe the hemostatic disturbances in 4-5 generations. The penetration of the gene is high, the expressiveness is unsteady.

Nel Decimo Congresso internazionale di Genetica il Comitato Organizzatore ebbe l'eccellente idea di dimostrare alla popolazione di Montreal, Canada, quale possa essere l'utilità pratica della Genetica e perciò aprì al pubblico una Mostra che portava questo slogan: «La Genetica a servizio dell'uomo» (Genetics in the Service of Man).

Se dovessimo anche noi fabbricare uno slogan come riepilogo dei nostri lavori, mi sembra che potrebbe essere il seguente: «La Genetica a servizio della Medicina».

Infatti i temi delle nostre relazioni, tavole rotonde, simposi e comunicazioni riguardano per 1/3 l'uomo sano e per 2/3 l'uomo ammalato. Del resto, come nella Medicina la conoscenza dell'uomo sano è naturale premessa per la conoscenza dell'uomo ammalato, così nella Genetica la conoscenza dell'eredità dei caratteri normali dell'individuo e della popolazione è, a sua volta, la necessaria premessa per la conoscenza della Genetica delle malattie dell'uomo.

La Genetica che si occupa di queste malattie porta un nome ormai introdotto e accreditato: «Genetica Medica». Il tema della mia relazione porta invece un nome diverso, quello di «Genetica Clinica», nome che io vorrei giustificare dinanzi alla vostra cortese attenzione.

In Volume VII, 1958 of the A. Ge. Me. Ge a research on the dermatoglyphics of an incestuous family (5 children, their mother, grandmother and grandfather, the latter also being the father of the children) was published. The present paper deals with the morphological features of the face, i.e. the soft parts of the mouth and chin region, of the eye region and of the external nose of the same family.

Theoretically speaking, in a case like this— owning to the increased amount of common alleles—an unusually close phenotypical resemblance among the children might be expected, as, in fact, demonstrated by the morphological analysis. The characters subject to changes by age represent an almostt step by step development and this is confirmed by the two observations carried out in 1934 and 1939.

Considering the variations caused by age, the children don't exceed, generally, the difference of monozytic twins.

Regarding the phenotypical similarity to the adults the theoretical expectation has been more than confirmed. There are close affinities with the grandfather and the mother of the children resembling him. Only a few features are in common with the grandmother and these, for the most part, are features typical of earlier stages of development. As some traits of this kind are characteristic for the grandmother these resemblances are considered to be of a temporary nature only.

The study of the dermatoglyphics revealed a surprising conformity between the children, their mother and their grandfather, while the grandmother differed. In addition two of the children showed a few widely divergent rare traits. Compared with the dermatoglyphics the isolated minor deviations in the morphological characters of the face seem of no importance. On the whole one is impressed how rapidly ancestral loss (« Ahnenverlust ») can lead to an extensive phenotypical homogeneity in a family.

The Authors show that the mitostatic action of hydrazine, ascertained on higher plants—is also present in the cells of Erlich's tumor-ascites in rats. Through the association of colchicine with hydrazine a metaphase-block is obtained, in which the number of affected cells as well as the ensuing cellular pathology are remarkably cleac. The Authors stress out the usefulness of the above association in mitotic pathology and its great possibilies in the field of the cytostatic therapy of leucoses and tumors.

The Aiome dwarf tribe in the mountains near the Ramu river and its southern tributaries was studied. Observations, measurements and photographs were made of 15 men and five women who came in a party to the Aiome airstrip. The measurements are embodied in Table 1 (p. 280). They include eye and skin colour; head length and breadth; ear length and breadth and the presence of a lobe; stature; development of brow ridges and relative depression of the nasal root. Other observations are in the text. The mean male stature was 147.9 cm which is roughly the same as that of the Congo Pygmies. The shortest woman was only 125.5 cm. high. The C.I. of the men was 78.51 and the ears are smaller than in most races.

The head-dress, decorations and “dances” are illustrated in Figs. 1-18.

The skin colour of Papuans is a shade lighter than in the Australian aborigines. In a study of skin colour of Papuans, Macintosh (1960) finds that the natives recognize and have names for three shades of colour. These appear to be due to (1) the homozygous (2) the heterozygous condition, and (3) the absence, of a minor gene for skin colour.

The fact that the blood group genes A, B, M, S, R1 and R2 of the Aiome dwarfs are closely similar to those of the tails in the Mount Hagen area justifies the conclusion that a single gene dwarf mutation is involved. The Aiome and Wissel Lake dwarfs (400 miles apart) differ greatly in the frequency of the A, M, S and R2 (cDE) genes, but agree in the B and R1 (CDe) frequencies. The blood groups of the Congo Pygmies similarly agree with those of the Bantu, from whose ancestors they may have been derived.

The early literature regarding dwarf races is reviewed and the question of a Negrito race in southeast Asia is discussed. It is concluded that the term Negrito should probably be confined to the dwarf race in the Philippines. They perhaps reached the Philippines from Borneo when the sea-level was down during the last ice age.

On the basis particularly of skull form, the Andamanese were probably derived from the tall population of adjacent Malaya or Burma. The significance of their steatopygy and peppercorn hair is not clear, as these characters are found in the South African Bushmen.

The Semang of Malaya are mixed and of doubtful origin. The dwarf nature and relationships of the Kadar in South India remains uncertain. The incised designs on their wooden combs suggests a possible very ancient cultural connection with the Malayan dwarfs and the Philippine Negritos. A Negrito-like remnant in Queensland may represent in part the source from which the Tasmanian aborigines developed. The Veddas are outside the Negrito grouping. They are probably Australoids of reduced dimensions who migrated to Ceylon during the last ice age.

The various dwarf groups in New Guinea are of local (and probably relatively recent) origin, having no connection with Negritos, who appear to be of much earlier origin, probably before the last ice age. Various localities with populations of different mean stature are listed in Table 3, and others are mentioned in the text.

A statistical treatment of Bijlmer's measurements of stature, nasal and cephalic index, with the aid of Dr. Fraser Roberts, shows that many of the groups in Dutch New Guinea are significantly different. A fuller statistical investigation dealing with both stature and blood groups, is required to elucidate this situation. A tentative hypothesis is put forward, involving the fractionation of the original dwarf gene in the process of back-crossing between tails and dwarfs.

In New Guinea the coastal people are the tallest, those in the higher mountain areas are conspicous dwarfs, populations in intermediate areas being shorter in different degrees than the coastal tribes. That crossing takes place is shown by the occurrence of occasional men who are much taller than the rest of their group or tribe. Further studies of Papuan statures should also throw light on the origin of multiple genes for stature.

The Committee of the Xth International Congress of Genetics had the excellent idea of acquainting the public of Montreal, Canada, with the practical utility of Genetics by organising a Public Exhibition under the slogan of: “Genetics in the Service of Man”.

If we were to choose a slogan that would best summarise our work at this Conference, I think we could suggest the following: “Genetics in the Service of Medicine”.

For one third of this Conference's papers, panel discussions, symposia and reports, has dealt with normal man, whereas two thirds considered diseased man. Just as, in Medicine, knowledge of normal man is the natural prerequisite for the understanding of human pathology; so in Genetics, knowledge of the heredity of normal traits, both of the individual and of the population, is the necessary prerequisite for the knowledge of Genetics of human disease.

Genetics dealing with disease now bears a name everywhere introduced and generally accepted: “Medical Genetics”.

The subject of my paper, however, carries a different name: “Clinical Genetics”, and I would now like to justify its choice.

Genetically determined abnormalities of structure or function occur either single or in various combinations. As genetic syndromes should be designated only those combinations that are typical, that is, significantly more frequent than would be expected from pure chance association. Some genetic defects are part of a syndrome or they only accompany other syndromes as irregular trimmings in various distribution and frequency. The accumulation of such “degenerative stigmas” as they were known to clinicians of an older generation had been called “status degenerativi” or “polygenopathy” and attributed to a “mess in the chromosomes” by the author long before this concept has been substantiated by the newest discoveries of British investigators. The biologic significance of such polygenopathies as to adaptation, resistance and general viability of their carriers has been stressed and a more satisfactory terminology suggested.

Individuals can be classified into two categories, according to the way of per forming hand clasping: R type, when the fingers of the right hand occupies the uppermost position (sec fig. in Rothschild, 1930), and L type, when the opposite situation occurs (see fig. in Winchester, 1958). Each person has his peculiar way of clasping his hands, and it is believed that the type persists unchanged throughout the whole life. The reason why some persons clasp the hands with the fingers occupying one position, and not the other, is as yet unknown. This fact cannot be explained by relatively large differences in the shape and proportions of the bones of the hand, since it has been shown that a close over-all similarity between them exists (Greulich, 1960). We suggest, however, that even the small differences detected can explain the situation.

Dahlberg (1926), based on twin and populational data, concluded that “there is hardly reason to presume heredity” in the genesis of the trait. His data can be explained well on the basis of a chance distribution, but this hypothesis can not account for the extensive amount of family data (Lutz, 1908; Yamaura, 1940; Kawabe, 1949; Yoshiwara, 1957; and Freire-Maia, Quelce-Salgado and Freire-Maia, 1958), as well as for the large amount of populational data (see Freire-Maia et al. 1958; Yoshiwara, 1957 ; Freire-Maia, 1961), and the ethnic, sex, and age differences detected (see Freire-Maia et al. 1958). Although all those authors presented strong evidences of a genetic component on the genesis of the trait, no simple Mendelian mechanism could explain the data, however.

Lamarck a condensé sa théorie de l'évolution des formes vivantes dans les deux lois suivantes:

Dans tout animal qui n'a point dépassé le terme de ses développements, l'emploi plus fréquent et soutenu d'un organe quelconque, fortifie peu à peu cet organe, le développe, l'agrandit, et lui donne une puissance proportionnée à la durée de cet emploi: tandis que le défaut constant d'usage de tel organe l'affaiblit insensiblement, le détériore, diminue progressivement ses facultés, et finit par le faire disparaître.

Tout ce que la nature a fait acquérir ou perdre aux individus par l'influence des circonstances où leur race se trouve depuis longtemps exposée, et par conséquent, par l'influence de l'emploi prédominant de tel organe, ou par celle d'un défaut constant d'usage de telle partie, elle le conserve par la génération aux nouveaux individus qui en proviennent, pourvu que les changements acquis soient communs aux deux sexes, ou à ceux qui ont produit ces nouveaux individus.

La théorie de Lamarck a été généralement acceptée pendant un certain temps par les biologistes évolutionnistes, jugeant qu'elle donnait une explication satisfaisante de l'adaptation des formes vivantes au milieu.

It has been the intention of the Authors to make a contribution to the study of the distribution of the blood groups ABO, MN and Rh among the population of the region of Lazio. A report is made on the results of 1042 blood-group tests carried out on subjects living in the region under consideration, no account beeing taken of their ethnic origins.

The data observed have been studied to establish the phaenotype frequency, and to ascertain the proportion of the genes (by making use of the methods based on the criterion of « maximum likelihood »). The χ2 test was also used to make a comparison between the diHe-rent ascertainments.

In 502 subjects out of the 1042, the serum was examined for the presence of the antigen « e » which, in fact does not occur very often.

A comparison was made between the sample of the population observed and the results with the same criteria in the choice of the subjects. A comparison with similar investigations carried out by other Authors in the region of Lazio has been possible in the case of the ABO and MN blood groups, while for the Rh group there are comparable investigations only for the provinces of Milan and Pavia.

The composition of the samples examined has shown some differences which have been evaluated by making use of the most appropriate statistical method. The χ2 test enables us to establish, on the basis of the number of degrees of liberty, what the frequency is of the samples whose representative point is more than χ away from the representative point of the sample chosen as a model. If this frequency is below a certain figure, for example 0.05, we may conclude that the empirical sample is a rare one for the distribution chosen as a model; and this divergence is attributed predominantly to systematic factors, since the empirical distribution is a sample corrisponding to another population.

The present population of the region of Lazio, as appears from the researches under examination is at the limits of homogeneity for the distribution of the principle types of the ABO groups: it is difficult to come to a con-elusion concerning the significance of the variation in the frequencies observed by different Authors. In the case of MN group the hypothesis of homogeneity is admissible, but the respective data for the region are as yet too meagre. A comparison between the different populations has given negative results for homogeneity in the case of Rh group.

Differences in results among investigations carried out in the same region must be attributed not only to the criteria of choice of the subjects examined (these also may not be a representative sample of the population), but also in the incomplete ethnic homogeneity of the individuals chosen. This is important for the purposes of anthropology, while for the purposes of forensic medicine it is useful to have a classification of the present population independently of the grouping according to ethnic origin. The frequency rate of blood groups can be evaluated by considering the average of the results of numerous investigations, provided that these are similar to each other at least in part. The percentage figures, taken out of all the investigations made in the region compared with each other, are the following; group A = 39,44%, group B = 11.44%, group AB = 3.98%, group O = 45.14%, group M = 33.09%, group N = 17.73% and for group MN = 49.18%.

Taste sensations for P. T. C. and the standards might occur when an aqueous solution of a solid is placed on a tongue, free from the saliva of the parotid, sublingual and submaxillary glands, the tongue thus being soaked only by the secretion of v. Ebner's glands and other small glands on the tongue.

A descending paper chromatography method described in the paper failed to reveal any different influence of the saliva from different persons (non-tasters, tasters and a sweet taster) on phenylthiourea.