The case of twin-sisters, 24 years old, showing congenital squint, that was corrected by surgery, hypermetropia and astigmatism is presented. The ophthalmoscopic examination revealed in one eye of both sisters, and specular-like, tortuosity of the retinal vessels, which in a subject is accompanied by twisted arteries in the vitreous body; in the other twin-sister an epipapillary membrane was observed, which is present in analogous form also in a single born brother. Furthermore, dystrophic lesions of the retina were present specular-like in both sisters. It is the first time that such a malformative syndrome is observed in concordant MZ twins.

The prolusion held by Prof. Gedda at the beginning of his Course of Medical Genetics at the Rome University is reported. Il deals with the question, what contribution may be brought by Medical Genetics to the culture and education of medical students.

As a first contribution, the introduction and the development of a very concrete and constant criterion of evaluation is considered, namely, the study of the family from which the patient derives, that very often leads to the first hospitalization of the patient himself.

Hereditary diseases, as well as the receiptivity to acquired diseases, reveal such a marked family imprint as to induce the geneticist to paraphrase the old slogan « there are no diseases but diseased persons » into the new one « there are no diseases but families of diseased persons ».

The study of the family, which is so important for both Medical Genetics and the physician, represents also a useful corrective for the tendency in modern medicine to fractionate excessively the medical care. The study of twins is a special case of the study of the family, which acquires a methodological importance.

Secondarily, Medical Genetics, being introduced as a subject of teaching in the last year of the program of studies in the Rome University, represents a useful recapitulation of the studies accomplished in the preceding years. In such a way, these may be advantageously synthetized and considered in the unitary and practical light of the individual heredity.

The Authors have studied 87 pairs of MZ-twins, determining for each individual the values of both Fusional Convergence (FC) and Simultaneous Macular Perception (SMP) by means of the major amblyoscope. They have found a high degree of discordance in the FC, corresponding to 80,5 per cent, while the SMP showed a lower degree of discordance (17,2 per cent.). The Authors have observed that the highest values of FC mostly belong to the “leader twin”; they make the hypothesis that the unusual discordance of the FG in the MZ-twins depends on a higher level of will in the “leader twin”, thus representing a test of psychological discrimination between MZ-twins.

The Authors describe a pair of male twins, aged 17, with concordant congenital clockwise torticollis, and two single-born sibs, one male aged 15 and one female aged 17, with concordant congenital counter clockwise torticollis. X rays show that in these cases the organic basis of torticollis is the wedgelike deformation of one or two cervical vertebrae. Other bone malformation are observed in the spines of the propositi and in the twins' mother.

The Authors describe a pair of male twins, aged 17, with concordant congenital clockwise torticollis, and two single-born sibs, one male aged 15 and one female aged 17, with concordant congenital counter clockwise torticollis. X rays show that in these cases the organic basis of torticollis is the wedgelike deformation of one or two cervical vertebrae.

The Authors believe that congenital osseous torticollis is part of a hereditary malformation of the axial skeleton; this malformation may be of two types, one “dysmorphic” (as the cases here described) and one “schisosynostotic” as in the twin case described by Gedda and Iannaccone in 1957.

The A. refers a case of a family living in a little country town of Sardinia: five males among 12 siblings are affected by myopathy (pelvic) while only one female shows a doubtful or very early form of it.

Parents, grand-parents and relatives are free from muscolar diseases, while among relatives there are four cases of psychopathy, one of mental deficiency, one of epilepsy.

The family is described as a case of recessive sex-linked disease with irregular phenomenology in a female.

In the same place lives a sporadic case with negative familiarity, which is not easy to discus because only child of two normal parents: anyway it deservers mention because the patient has the same family-name of two members of the case referred above.

This paper expresses new views regarding the origin and relatioships of the African Pygmies, based on a study of a small colony at Bundibugyo in Western Uganda which apparently differ in no respect from the Efé Pygmies. Compared with them are the Bwamba, a tribe examined at Bundibugyo and Fort Portal who are found to be pygmoids, of relatively recent hybrid origin from crosses between the Pygmies and forest Negroes. Their intermediate stature and great variability confirm the hybrid origin.

Citation of early literature shows that the Pygmies formerly occupied a much wider area, including the Cameroons, Sierra Leone and probably Liberia in West Africa, where they first came to the attention of Europeans in the 16th Century. The Eastern Pygmies first came to be known about 1870 by expeditions up the Nile into the Azande country where they found the Monbuttu Negroes and the Akka Pygmies. The ancient Egyptians knew the Akka.

The Bambuti Pygmies are now recognized as having three branches, Efé, Basúa and Aká of similar dwarf stature, the differences between them being of minor character. The upper limit for Pygmy stature is generally regarded as 150 cm. Surrounding the Ituri forest Pygmies are many pygmoid tribes of taller stature, produced by miscegenation with the forest Negroes. Groups extend east to the Semliki River and south as far as Lake Kivu and even Lake Bangweolo. The adjacent Negro (Bantu) tribes in these eastern areas show various degrees of hamitization.

Accounts are given of early as well as later European contacts with Pygmy tribes, and of certain groups taken to Europe.

The extensive observations of Schebesta and Gusinde have made the Bambuti Pygmies best known. For these people Gusinde adopts the name Twiden, which may be shortened to Twi. He shows that some of the eastern Pygmies and pygmoids have recently undergone great changes in their manner of life.

The unique symbiotic relations between Pygmies and their Negro overlords are well known. They hunt in the forest for okapi, elephants and other animals, supplying meat to the Negroes, who give them bananas in return. When the banana was introduced to Africa from India is unknown, but there must have been an earlier period when the Pygmies fed themselves, and perhaps lived in open territory northeast of where they now extend. The Singa fossil skull gives possible evidence of such former extension.

The pantropical disease Kwashiorkor, is seen in the Pygmies, the brick-red hair being a symptom. It apparently results from protein deficiency, and especially from a diet of bananas at the time of weaning. The Pygmy teeth and jaws are probably the most pathological to be found in any human race.

Racial mixture with the Negroes is considered. Forest Negroes frequently take a Pygmy wife, whose children become “Negroes”. The Pygmies thus remain pure except for occasional unofficial mixing. The F1 hybrids are intermediate in stature and probably in other characters. They backcross to the Negro and are thus absorbed into that race. A small number of genes, without dominance, for each racial character-difference is probably involved. The Balese and Babira Negroes are much pygmyized.

Study of skin colour in Pygmies, Baambas, Hottentots and Negroes shows that the Gates chart of skin colours is applicable to these races. The Pygmies correspond with No. 3 (mahogany) of the chart, the Baambas (Pygmy X Negro) with No. 2 (dark mahogany), the Hottentot-Bush with No. 4 (yellow), and the Negro with No. 1 (black). Thus the gene R, under which was formely included both black and mahogany, is divided into two – Q representing the black of the Negro, and R representing the mahogany of the Pygmy. S (yellow) and T (brunet) skin are present in the Bush-Hottentot. The full black Negro is then QQRRSSTT, the Pygmy RRSSTT and the Bush-Hottentot SSTT. The colour chart, derived only from Negro-White crosses is thus directly applicable to the other African races.

Certain evolutionary relationships of the Pygmies, Negroes and Bushmen now seem clear. The Pygmies are of ancient origin, with mahogany skin and hairy body. The Negroes have since acquired a black skin by the Q mutation, and their bodies have become hairless by one or more loss mutations. The common ancestor of Pygmy and Negro would be a tall race with the mahogany skin and hairy body of the Pygmies. This race may now be extinct. The Bush, with sallow yellow skin, must have lost the ancestral mahogany gene in addition to their other transformations.

The Pygmy dwarfing is apparently the result of a single gene mutation of essentially achondroplastic type, as suggested in 1946. This kind of mutation is not very uncommon in Negro-tribes (various cases are cited) and Has probably been occurring, like melanism in moths, for thousands of years. Interbreeding of such heterozygous dwarfs would quickly establish a tribe more or less homozygous for the dwarf gene. The Pygmies are then the oldest living race in Africa with the exception of the Bushmen.

The blood groups and sickling of the Pygmies are considered in relation to other African races.

Measurements show that the Pygmy skull is frequently little smaller than that of the Negro, their ranges apparently overlapping, although some Pygmy skulls are very small in dimensions. The cephalic index is higher than that of the Negro in accordance with the small stature, and frequently approaches closely to brachycephaly or overlaps it in the female. In morphology the Pygmy head is ovoid, but skulls are frequently more or less markedly pentagonoid. This suggests a common Boskopoid origin of Pygmies and Bushmen. The Pygmy nose is very primitive and characteristic. Various other morphological features of the skull are considered. The Pygmy teeth and jaws are the worst in any human race, the alveoli being sometimes eroded away completly. This may have a nutritional basis.

The armspan in the living Pygmy exceeds the stature, but the proximal segment of both limbs is relatively very short. The bones of the skeleton are generally smaller in all dimensions than in the tall races, but the head is relatively large, and the same is frequently true of the pelvic girdle. Thus we have a form of achondroplastic dwarfing of mutational origin. Many kinds of dwarfing occur in man, some normal, some pathological. The Pygmy type is one of these but “normal”.

The observation of twin-brothers of 4 years affected by congenital squint caused by ophthalmoplegia of Musculi recti externi, probably nuclear in origin, is described. This is the second report on concordant ophthalmoplegia in MZ twins.

With complete ascertainment, in populations with twin material unselected except for the presence of a specific trait (1) the ratio of ascertainable monozygotic to dizygotic twin pairs lies between ½ and 1 of the ratio in the general population and (2) the ratio of all ascertainable twin pairs to the total number of individuals lies between one and two times of that found in the general population. Formulae are derived which relate the frequencies of ascertainable twin pairs to the frequencies, from « suitable » parents, of the « affectable » genotype and to its penetrance. The calculated expectations are compared with some observed values.

The prevalence of psychological tendencies in psychiatry and the scarceness of material in our small country have resulted in a certain neglect of the problem of twin studies (as part of the theory of constitution and genetics). Uni-ovular twins - meaning identical in their heredity, monozygotes - enable us to reach important conclusions regarding the influence of constitution on, and the hereditary character of psychiatric diseases. Apart from observations at birth, uni-ovularity is proved by the method of similarities in physical and psychological Traits, esp. finger-prints, blood groups, and handwritings; recently another proof has been found in the electro-encephalogramm (EEG) which is identical in uni-ovulars. Bi-ovular or non-identical twins (dizygotes) have every mark of siblings, e.g. the statistical percentage concerning the hereditary character of certain illness, which percentage is much smaller than with uni-ovular. The cases of five pars of identical twins are presently recorded: two pairs in detailed observation by the writer, three pairs which have been referred to me by the kindness of several institutions in this country. (It is by chance only that all these pairs are female). Of these five observations, four concordant uni-ovular twins belong to the schizophrenic form, one to the maniac-depressive.

The history and literature regarding this trend of studies are referred to at some length, esp. the findings on criminal twins (Johannes Lange et al.) and the exhaustive material of F. J. Kallmann, New York, which latter did observe 953 pairs of schizophrenics, 75 pairs of maniac-depressives, 96 involution psychoses, etc. These studies and those by other authors show a concordance - meaning appearance of the same illness in both twins -of nearly 100% in maniac-depressives, and of up to 86% in schizophrenics. The limited discordance in schizophrenia is dealt with and explained by factors other than environmental - or (as some hold) even psychological influences on the genesis of schizophrenia. The « mother-child complex », meaning the influence of earliest childhood, is unacceptable as a factor in the origin of child schizophrenia.

Therefore, observation of twins provides important conclusions on the constitutional or hereditary character of serious psychoses, as well as on criminality, suicide, homo-sexuality, involution psychosis, epilepsy, mongolism, mental debility, and many other problems of psychiatry and the important problem of influences by « nature and nurture », or constitution and environment, on psychic illness. All these make it possible to revise, in the sense of genetic constitution, several opinions held in psychotherapy, psycho-analysis, and psycho-somatics.

In MZ-twin-sisters, aged 19 and underdeveloped from the psychophysical viewpoint, the Authors have indentified the presence of a Verhoeff's hypertropia due to occlusion, concordant and congenitally associated with squint and nystagmus. The latter is present in the mother and in a single born sister too, who is affected also by heterophoria. This is the first report on hypertropia due to occlusion in twins.

In six monozygotic and six dizygotic healthy twin pairs the urine elimination after rapid drinking of 1000 cc of water (Fishberg-Volhard test) was studied. Considerabbe variation wes observed in the diuretic response of these individuals, particularly in the maximum rate of the reactive diuresis. The minute volumes of urine during the half-hour period of the largest output were compared between the partners of each twin pair. It was found that the difference of the maximum rate of urine flow was significantly (0.01 level) smaller between one-egg than between two-egg twins under otherwise equal conditions. The concept of genetic factors controlling the function of the renal tubular cells is discussed.

A method of calculating the probability of paternity, based upon Bayes' theorem, for Rh blood groups has been developed. Tables have been prepared for calculation of the probability of paternity for the most common levels of testing, i.e., with five anti-sera (anti-C, -D, -E, -c, -e), with four (anti-C, -D, -E, -c) and with three (anti-C, -D, -E). The same probabilities at other levels of testing can be calculated by applying the method and tables presented in this paper. Since the tables presented herein include calculations for chromosomes which appear to occur but rarely as far as known to date, these tables can be applied to all populations with different chromosome frequencies.

The author wishes to thank Prof. S. Ueno, University of Tokyo, and Prof. Y. Komatu, Tokyo Institute of Technology, for helpful advices which they have given in the present study.

The dermatogliphics of an incestuous family (a couple, their daughter and the daughter's 5 children) have been studied. The couple's daughter had 5 children with her own father. Thus the man is the children's father and grandfather at the same time.

Compared with the results of monozygotic twins some features of the children's digital patterns are of great similarity whereas other ones differ strongly. The palmar ridge configurations of the children, especially the terminations of the main lines and the interdigital patterns show striking conformity. The children with their mother and father (respectively grandfather) differentiate clearly from the grandmother, above all in the palmar charac-

The problem is how to explain the features mentioned above which vary markedly among the children and which show configurations absent in the three ancestors.

The A., after a short survey of the scarce bibliography on the subject, describes a personal case of a cyclic familiar granulopenici and confirms the hereditary character of the disease.

According to the results found in literature Microcephaly — better Micrencephaly — is a syndrom with a very heterogenous pathogenesis which often remains unclarified. Its etiology, though occasionally purely exogenous, seems to be mostly hereditary in the sense of monomeric recessivity, as the experiences, so far rather scanty, of research in families and in twins show.

The so-called Microcephalia vera is to be considered identical with this mono-recessive form.

Our data may be divided in four groups:

Group I comprises 35 cases of verified or almost sure M. vera in 23 sibships. The diagnosis are mainly assured by clinical data and photos and in 4 cases by post mortems, 3 of them having been most carefully examined under the guidance of brain-anatomists like C. v. Monakow, M. Minkowsky and E. Grünthal whose publications in detail are referred to here. The Sex-Ratio in our cases (17 male and 18 female) is practically 1:1, therefore deviating considerably from that found in Japan and even more from that found in England and in Holland.

The application of Weinberg's sib-Method to our thoroughly studied, non-selected series gives the percentage of 24,2 ± 6,2 largely corresponding with the theoretical expectation for the assumption of simple recessivity.

A parental consanquinity was only found in 10 families though even the IV. - V. Canonical degree was also considered twice and though about a third of our patients originate from isolates. The number of I. and II. cousin-marriages occur but three times each (together 26%). Further, 1 case of incest between father and daughter is described.

The main complications in our cases of M. vera are epileptic fits and fits of excitement with aggressive tendencies. An encephalocele was found only once and other states of dysraphy nowhere prevailed; neither did cerebral tumors, phacomatosis and other systematised nervous affections, as well as mongoloid idiocy, disturbances of metabolism and somatic malformations. Also psychoses were not above the average in the kinships concerned.

General spasticity, a symptom found regularly in their cases by other authors was only met with in a minority of our cases. Possibly there may exist heterogenity in M. vera, which phenotipically manifests itself by the presence or absence of general spasticity.

Since in Switzerland by far not all cases of M. are interned, the frequency of M. vera is difficult to ascertain. About half of our patients died in early childhood and maybe many die through abortions, the gene involved being semilethal.

Growth and life-span can rarely be normal even in high-grade microcephalic idiots. Most of them, however, are undersized, exceptionally real dwarfs.

Among the non microcephalic sibs of our patients we found a considerable number of feebleminded and bordeline cases, showing — but not always — a lessened head-circumference. In the parents of our microcephalics, however, only exceptionally an intellectual deficiency was stated, more frequently as a matter of fact a lessened head-circumference. The very heterozygotes are not at all always characterised physically and mentally or even in one respect.

Our three other groups seem to refer to a secondary microcephaly and therefore are restricted to isolated cases. In one kinship a microcephalic boy is first cousin of an idiot with hydrocephaly. In another kinship with apparently simple recessive deaf-mutism and idiocy one patient shows microcephaly. In a third family with four sibs of clincally diagnosed cases of diffuse cerebral sclerosis each affected member was also microcephalic; here we have to deal probably — as the parents are II. cousins — with a particular specific simple recessive gene.

The evaluation of the sketches of the hands of 746 consanguineous persons of different ages and sexes as well as the examinations of 120 radiograms of the hands of non-related adults have shown the following results:

1) Relatives (Brothers and sisters, mothers and children, parents and children) resemble each other with regard to the respective finger-lengths and the proportions of these between right and left hand more than non-relatives do.

2) The respective finger-length is organized anatomically by the longitudinal variations of all elements of the second and forth rays and modified by the Carpalia and the longitudinal proportion of Radius and Ulna. We can regard the most extensive variations of growth at the second ray in men and at the forth ray in women. In the same manner the lateral differences between the right and the left hand can be explained for both sexes mainly by the longitudinal differences of the second rays.

3) In reference to these anatomical conditions a genetical hypothesis about a transmission of the relative finger-length is developped and its usefulnes for the diagnosis of paternity comes to discussion.

A survey conducted at the Rehabilitation Institute of Montreal, covering 250 cases of cerebral palsy, came to include three pairs of identical twins, all discordant as to the disease. Pair I was female, 8 years old; Pair II, male, 6 years old; Pair III, female, 18 years old.

All vere subjected to physiatric, psyschiatric, and psychological tests as well as to tests involving activities of daily living. In each instance, the study was completed by EEG's still and motion pictures. The investigations included psychological and psychiatric evaluation of parents.

Extensive medical, psychological and psychiatric conclusions are drawn.

The Authors refer the results of the genetical research on 199 probands with cancer of the cervix uteri (unselected sample of the 418 collected cases). In comparison with a suitable control material a significant higher familial incidence does not result.

The Autors have begun a genetic research on the ovarian cancer. In this first part of the work:

1. it has been defined the group of the “ primary cases ” in which have been included 74 cases of solid carcinoma, 108 cases of cystic carcinoma and 93 cases of unclassified malignant tumor of the ovary.

2. it has been studied the age of appearance and the age incidence variation of the ovarian cancer, and it has been found that:

a) the mean age of appearance is 51,15 ± 0,64 years, but it lowers to 48,94 ± 0,68 years for the solid carcinoma and rises to 52,36 ± 0,90 years for the cystic carcinoma;

b) the period of the greatest frequency of the disease is between 40-60 years of age, followed by a sharp decrease over age 65;

3. it has been analysed the fertility of the patients, and it has ben recorded a decrease of the mean fertility up to 29% as compared to the general population;

4. it has been mentioned the importance of the hormonal factor as a problable condition for the development of the ovarian cancer, that nevertheless calls for other — likely idiotypic — factors.