In this first report the Authors take into consideration only the meaning of group I of Arneth's formula, utilizing the data of the zoo findings on pairs of DZ, of healthy MZ and diseased MZ Twins. They find, in group I, a moderate influence of the disease factor.

These findings are believed to be in agreement with Pappenheim's theory, according to which the relationship between the first group of Arneth's formula and the following groups would be lined more closely to a maturative factor influenced by physiopathological conditions than to a cellular constitutional, which is present, though.

The genie factor dominate instead in the other four groups, as will be amply shown in the next report.

The Authors have studied from the genetical point of view two family cases, mainly ophthalmological, with the following relevant findings:

Case 1) Proposita: female MZ twin, aged 13, suffering from facial paralysis on the left, with acute onset and persisting after two years, accompanied by the phenomenon of “Crocodile tears”. In the proposita, her co-twin, a single-born sister and the mother a parakinesia is found, consisting of a degree enophthalmus and of a narrowing of the left palpebral fissure when the left eyeball is adducted.

Case 2) Propositus: six-years-old boy affected by ocular albinism, as are 7 more males and 2 females in the family, while 3 females (including the propositus' mother) only present a partial depigmentation of the fundus (metaform). The transmission of ocular albinism has been found both through the female with a metaform and directly from father of sons.

Come genetista e direttore di Acta Geneticae Medicae et Gemellologiae sono lieto di dedicare il « Supplementum primum » alla figura del Prof. Otmar Freiherr von Verschuer in occasione del suo 60mo compleanno.

Mi muove a far questo la riconoscenza, perchè quando elaboravo il mio trattato sui gemelli ho trovato un singolare aiuto nel consiglio del Prof. O. von Verschuer che egli mi ha offerto con quella profondità e competenza che caratterizzano il suo ingegno e con quella nobiltà e generosità che distinguono il suo cuore.

Ed anche quando l'Istituto Mendel, che ho l'onore di dirigere, si è presentato all'attenzione degli studiosi di genetica ho trovato immediata comprensione ed appoggio nel Prof. O. von Verschuer, il quale ha preso parte come relatore al « I° Symposium » di Genetica Medica organizzato in occasione dell'inaugurazione dell'Istituto (Roma, 1953).

Se riferisco questo non è solo per il doveroso ricordo di una personale esperienza, quanto per mettere in luce un aspetto molto importante nella vita del Nostro che dimostra con la signorilità e la generosità del sapere la sua ricchezza interiore, giustificando in questo modo l'affetto di cui è circondato e facendo comprendere come mai egli abbia potuto crescere una Scuola così fedele alla sua Persona e cosi feconda nella produzione scientifica.

Con il 1956 si apre il V volume della nostra Rivista e si compiono cinque anni da quando abbiamo pubblicato il libro « Studio dei Gemelli ». Una vasta famiglia di autori, ed una più vasta di lettori, si è raccolta attorno ad « Acta Geneticae Medicae et Gemellologiae » la quale, unitamente al libro, ha valso a rinfocolare l'attesa e l'impegno attorno agli studi gemellari, ed a raccogliere un materiale di cospicuo interesse.

Per sottolineare questa circostanza riprendiamo il profilo storico della gemellologia che abbiamo tracciato in un capitolo di « Studio dei Gemelli » per integrarlo con alcuni dati recentemente acquisiti, non senza notare che, in genere, questo assunto non coincide con quello di aggiornare il lettore con i progressi della gemellologia, perchè altra cosa è l'apporto scientifico, a cui attende periodicamente la Rivista, ed altra cosa l'elaborazione storica del pensiero scientifico.

Quest'ultima richiede, fra l'altro, una certa prospettiva nel tempo, cioè una distanza che consenta di attribuire ad ogni apporto il valore che effettivamente e definitivamente gli compete per accordarlo con le linee di sviluppo del pensiero scientifico.

Kongenitale Missbildungen, die sich auf die Fruchtbarkeit auswirken und sie entweder beeinträchtigen oder sogar völlig annullieren sind diejenigen, die die Empfängnis, die Schwangerschaft oder die Existenz eines lebensfähigen Geschöpfes verhindern. Diese Missbildungen, die ich der Kürze halber « antifertile Missbildungen » nennen will, sind Kongenital d.h. schon bei Geburt vorhanden.

Die Besprechung des Stoffes erfordert eine Aufteilung in vier Abschnitte:

1. Allgemeine antifertile Missbildungen;

2. Lokale antifertile Missbildungen bei der Frau;

3. Lokale antifertile Missbildungen beim Manne;

4. Antifertile Missbildungen, die das Leben der Frucht verhindern.

Die allgemeinen antifertilen Missbildungen beim Manne und bei der Frau können gemeinsam besprochen werden. Es handelt sich um missbildende kongenitale Krankheiten, die die Fertilität durch verschiedenartige Mechanismen beeinflussen: durch hormonale Störungen, Strukturveränderungen, psychogene oder neurologische Veränderungen usw.

Ich beziehe mich hierbei auf Missbildungen, die ein ganzes System befallen, wie Mongolismus, das Syndrom von Morquio, das von Marfan, von Lawrence-Moon-Biedl, der idiopathische Infantilismus usw., die alle mehr oder minder mit Unterentwicklung der Genitalien und häufig auch mit örtlich spezifischeren Missbildungen, wie zum Beispiel Kryptorchismus, einhergehen.

After an earlier report about twins and sports the question of dependence of the aptitude for sports from the genotype is again examined. Examples are provided by families of famous international sportsmen as well as by families from own larger examinations.

It is established that the proportion between parents and siblings in the sport-families is about 1: 1 and probably dominant genes are the cause of hereditary talents for sports. No evidence could be given for recessive inheritance.

As sporting talents are to be seen in many different forms, several independent genes for sporting endowment and accordingly heterogeny may be supposed.

As the results of the twins examinations have shown, further examinations on families with special sporting capacity remain to be seen.

The result of the examinations of Prof. Dr. Luigi Gedda are of special importance.

Report about some observations with special concordance in 4 pairs of identical twins with kidney-stones, one pair of especialy concordant allergies, hyperthyreosis and cystical-glandular hyperplastic uterus and a pair of identical twin sisters, on-concordant congenital dislocation of the hip, resistant to all therapeutic essays.

The especially concordance of the demonstrated twins is to be explained, that in the cases observed by the author is to suppose a stronger effect of chief gens and a lower manner of modifying by side gens or exogen ly ten years old, with particulary factors than in the ordinary states of twins with corresponding hereditary diseases.

A finally demonstrated pair of non identicaly twin brothers with same deformities of the knees and same clinical symptoms) directs, that beside the same genotypus also the same exposition may realize especially twin concordances.

Report about examinations in the families of 24 children with severe, lethal malformations of the heart. At all probands, who had died before 6th month of life, the, cause of death could be insured by autopsy.

Under 16 children with lethal defects of the septum 6 suffered from mongolism (additional one with enterocystom of oesophagus, one with double inguinal rupture, one with cleft palate and one with microcephaly and atresia of the duodenum). In none of these families any sign for heredital cause or « ovarial insufficience » of the mother could be found.

In the families of 10 children with defect of the septum without additional malformation two times the clinical examinations of the mother showed distinct symptoms of heart decompensation without evidence for acquired heart diseases. In two other families beside the probands other family-members with inborn heart diseases could be found, one time an autoptical proved defect of the septum at a cousin of our probands father.

During these families seem to show heredity of lethal defects of the septum in an irregular dominant inheritance, only one time in an «isolated » case of lethal defects of the septum the cause of the malformation may be seen in severe bleedings of the mother during pregnancy.

In an earlier report about similiar examinations two siblings could be found, one of them had only a defect of the septum, the other had beside a defect of septum, a severe harelip and cleft palate, a hernia diaphragmatica, a hypoplasia of the fingers and a microcephalia combined with arhinencephalia. The father of another child with a defect of the septum suffered from coloboma of the iris.

It is supposed, that there are several gens to septum defects, that means Heterogenie. Polyphenical effects of the gens result differential forms of manifestation, not only at the heart. There were no differences found on homozygotics and heterozygotics.

Among 8 children with differential other malformations of the heart (5 cases of severe stenosis of the aorta, 1 case of malformation of the pulmonal valve, 1 case of trasposition of the big arterias) only one time could be found the same anomaly (open foramen ovale, open ductus arteriosus) on two cousins (each of them have an non dissecated brother with equal clinical symptoms). Because the parents were non blood-related also in this family an unregular dominant inheritance of the anomalies at the foramen ovale and the ductus arteriosus seems probable.

Systematical examination in families with lethal malformations are further equal necessary as explications of pregnancy harms for exclusion of exogen factors.

This study is based on pedigrees of 287 patients with Rheumatic Fever, which are compared with pedigrees of 300 controls: 11,7 per cent of all relatives in the first group had rheumatic fever, compared to 2,2 per cent of all relatives in the control group.

An hereditary predisposition to rheumatic fever is definitevely to be admitted.

This predisposition is due to the presence of a principal autosomal dominant gene with reduced penetrance and variable expressivity.

It seems to have no genetic relationship to the diathesis of allergic diseases and the diathesi of degenerative connective tissue disorders mesenchymotic diathesis.

New researches have made it evident that besides the two normal Hb, the adult one (a) and the phoetal (f), there are other pathologic Hb: c, e, s, d, g, h, i.

These Hb, excepting the h, are present in the hetherozygote on every healthy person and in the homozygote, excepting the g Hb, determine chronic hemolitic anemia.

The f Hb, or a very similar Hb, is present in the Thalassemia minor and major, in some homozygote cases of abnormal Hb, in the interreaction between two different genes of these Hb, or between one of these genes with the one of Thalassemia.

We may retain that the genes a, c, s, d, e, g, i, form an allelomorphic series. The gene Th is not a part of this series.

Since in the homozygotes ss, cc (in absence of the gene a) the quantity of abnormal Hb does not always reach the same percentage, we may logically retain that the different quantity of abnormal Hb possessed by the s and c hetherozygotes depends from the different synthetic capacity of the genes of the two abnormal Hb. The appareance of f Hb may be the expression of a phenomenon of physiopatological compensation, which occurs when Hb a formation is prevented.

Das fotografische Bild eines menschlichen Kopfes ist eine flächenhafte Wiedergabe einer Vollplastik. Wenn eine solche Aufnahme wissenschaftlichen Zwecken dienen soll, muss man von ihr erwarten, dass sie alle Formmerkmale richtig erkennen lässt, so dass aus dem flächenhaften Bild die richtige Plastik herausschaut.

Bei Familienuntersuchungen und beim erbbiologischen Aehnlichkeitsvergleich, wie ihn der Anthropologe durchführt, spielt die Beurteilung morphologischer Merkmale nach Lichtbildern eine erhebliche Rolle. Eine richtige bzw. falsche Beurteilung von Einzelmerkmalen an einer Kopfaufnahme kann weittragende Bedeutung haben. Um eine Basis für einen brauchbaren Vergleich von Bildern und eine richtige Beurteilung von Merkmalen am Lichtbild zu schaffen, muss eine gewisse Normierung in der Aufnahmetechnik eingehalten werden, auf die im Schrifttum schon oft hingewiesen wurde (z. B. Mollison, Th., 1910, Arch. Anthrop. N. F. Bd. 9, S. 305-321; Martin, R., 1925, Anat. Anz. Bd. 59, Nr. 22/23, S. 529-538; Rodenwaldt, G., 1935, Archäol. Anz. S. 354-363). Alle Fehler, die sich nur zu leicht bei fotografischen Aufnahmen einschleichen, müssen erkannt und nach Möglichkeit beseitigt werden.

An Hand von einigen Lichtbildern aus der praktischen Arbeit des Anthropologen soll auf solche Fehler aufmerksam gemacht werden. Hierbei müssen vor allem beachtet werden die Einstellung des Objektes zur Kamera und die Beleuchtung.

An African woman of about 40 years old reported to the out-patients' department on 31st January 1955 because of nausea and vomiting, with amenorrhoea of three months duration. Examination revealed a 2-months' pregnancy. She had six normal deliveries of which three children were still living.

On 3rd February she reported again, complaining of stomach-ache and diarrhoea. The stool examination showed some leucocytes and erythrocytes, but no amoebae, cysts or parasitic ova. On 23rd February the woman again reported, this time with a simple pharyngitis. She came again on 29th June for pre-natal examination and treatment. She had no complaints and was seen to be about 32 weeks pregnant, with a moderate degree of hydramnios. The foetal heart was inaudible.

On 1st August she was admitted to hospital in labour. The membranes were intact, the cervix fully dilatated and presentation was occipito-anterior of the vertex. Artificial rupture of the membranes released only a small amount of amniotic fluid, but labour proceeded normally with the usual quantity of fluid accompanying the birth. Immediately this child was born another bag of waters presented, which was ruptured to release about six pints of amniotic fluid. A second baby now presented by the breech and was delivered by Bracht's method. We noticed at once that this second baby was affected by mongolism.

The Authors after a brief critical review of the literature on the familial incidence of uterine cancer, refer some clinical and statistical data of the 144 cases of cancer of the corpus and of the 418 cases of cancer of the cervix uteri that have been collected during their work.

The Author describes two case of Fanconi's syndrome in a 5-year-old boy and in an 11-year-old girl respectively. A diagnosis was made in both of erythroleucothrombocytofenia and medullary aplasia, cutaneous, hyperpigmentation, some shortened and bent fingers, symptoms of haemorragic diathesis and of alterations in body development with radiological signs of intracranic hypertension, high levels of plasmatic proteins with increased globulins. In the boy scleroedema was also found. The tests for haemorragic diathesis hinted in this case, at the presence of anticoagulants in the blood.

The statistical study of all the cases published in the literature and an appraisel of the results by the methods of Lenz and Hogben induces the admission that Fanconi's syndrome is a hereditary disease transmitted by a recessive character with multiple effects irregularly expressed.

In this paper a counterpart is given to the data of our investigation about the incidence of infantile amaurotic idiocy (Tay-Sachs) in Switzerland, published here in 1954. The term «the-saurismose» is rather unclear and had to be critisised by Letterer. The diagnose of all lipidosis is more difficult than of any other genetic character, as neither a thorough clinical and histological examination nor the chemical analysis of the brain and the big abdominal organs (spleen, liver etc.) is sufficient; it ought always to be completed by the modern histochemical method at least if we want to separate the M. Niemann-Pick from the M. Tay-Sachs. The quarrel between the « unitarists » and the « dualists » concerning the independence of these two phosphatid-lipidosis does not seem to be ended definitely by chemical analysis of the affected organs. Undoubtfully these two very similar diseases must have many common traits in their pathogenesis. This does not mean, however, that they do not depend on 2 different genes, may be working at the same pheno-genetical chain (Klenk), perhaps there is a pseudo-allely, which as a matter of fact can hardly ever become proved in men. This author showed that the M. Niemann-Pick is regularly characterised by a high percentage of sphingomyelin whilst in the M. Tay-Sachs the gangliosids prevail. But recently this difference is regarded to hold only quantitatively. Therefore we have to look for genetical proofs of the independence of these two lipidosis. An observation of van Bogaert in his famous pedigree of the family Mi. and another less convincing of Driessen show that among the children of the same parents cases of both these lipidosis can appear. Since both these families are of Russian respectively Polish-Jewish origin, coming from a not very big area in which these lipidosis were found relatively very often, these two instances also could be explained by mere coincidence.

Our Swiss cases which all happened in families of non Jewish origin do not show sibs the one of whom had M. Tay-Sachs and the other M. Niemann-Pick, nor were combinations of both lipidosis observed. Unfortunately excepted one, namely that of Baumann, Scheidegger & Klenk, none of our cases has been examined with all the modern methods. These 3 specialists established the theory that we deal in the M. Niemann-Pick and M. Tay-Sachs with specific cellular dystrophies and not an overloading of the blood with certain lipids, as was supposed by Pick: For, all values of blood-chemistry, principally of the total amount of fatty acids as well as of cholesterol and of anorganical phospor used to be normal in the serum of those patients. The data published by U. Pfändler could become disguised as rare exceptions or consequences of alterations in a no more fresh serum. His conclusions with regard to the pathogenesis and the way of hereditary transmission cannot become adopted neither for the adult, nor for the infantile forms of Niemann-Pick.

The facts found by us and others clearly speak in favour of a simple-recessive transmission, at least for the infantile forms of M. Niemann-Pick, the same has been proved by us for M. Tay-Sachs. Videbaeks pedigree with parents of the 2 children with M. Niemann-Pic being first cousins, is not to be interpreted otherwise. Of our Swiss families with M. Niemann-Pick 3 contain each 2 fraternal and 3 isolated cases; parental consanguinity was found 4 times but not very close though 5 of these families come from isolates. The gene concerned therefore cannot be too rare. Like the other authors we did not observe secondary cases in collateral lines. The oldest of our patients reached the age of 3½ years. There is no higher incidence of other hereditary diseases, especially with regard to metabolism, in our 6 Swiss families.

From the clinical standpoint there is to mention that 4 of our 5 cases studied in detail showed the typical red spot in the region of the macula retinae; one case showed a complete atrophia nervi optici and another an atrophy of the temporal parts of the papilla nervi optici. In most cases a demencia or «imbecility » was noted, a fact which suggests the participation of the brain in the processus of the specific thesaurismosis. Unfortunately, however, the brain has but once been examined with the modern histochemical methods.

Twin research affords an opportunity to study the interplay of heredity and environment. For this reason, twin research is of special interest in the study of physiology of exercise. Genetically, identical twins are the same individual in duplicate because they are the product of a single fertilized egg which splits in half to form two individuals. Non-identical twins are different individuals who through chance were born together. They originate from two different eggs.

In non-identical twins, physique may differ significantly because each partner possesses his own hereditary endowment (fig. 1). By contrast, identical twins represent two editions, so to speak, of the same body type (fig. 2). The degree of correspondence of morphological body features in identical, as against non-identical, twins has been statistically assessed by Newman, Freeman, and Holzinger (Twins, A Study of Heredity and Environment, Chicago, 1937).

Young gastrulae of Triton alpestris were medianely transsected with a quick cut effected by means of a glass needle. On each of the open median planes of the two halves was grafted the whole presumptive epidermis of a second and, respectively, of a third gastrula in the normal animal-vegetative orientation (fig. 1). Each of the right and left twin combinations thus produced contained therefore all the organ rudiments in half the normal quantity - with the exception of the epidermis rudiment which appeared in one and a half times the normal quantity.

The transplanted epidermal rudiment heals in and afterwards takes part in the formation of the embryo. In the course of gastrulation and neurulation the halved blastopore lip completes itself out of the grafted material which participates in the formation of the nervous system and the mesoderm (including probably notochord and myotomes). On the whole, there arise in favourable cases, straight, well-stretched larvae. More frequently, however, are the larvae with incurvations, persisting yolk plug, or with Spina bifida (see Mangold and Testa 1953, figg. 8-a, b, and 9-a, b, and, above, figg. 2-a, 3-a, 10-a, 11-a). The causes of these deficiencies must be looked for in secondary damages occurring during the operation, in incomplete healing processes, and in disturbances of the gastrulation.

As a rule, a far-reaching regulation of the halved rudiments towards bilaterally built organs takes place, but even in favourable cases it could be observed that some organs were slightly underdeveloped on the inner sides of the twins (these are the completed sides). The head, beside such asymmetries, showed synophthalmous and cyclopean deficiencies in most of the cases.

14 Larvae (7 couples) were chosen out of a greater material to investigate on their microscopical sections the regulation of the inner organs. Marked differences were found to exist between the single organs in this regard (see table I, pag. 391). The best regulation was represented in the mesencephalon showing perfect symmetrical structure in most of the cases (figg. 2-b, 8-c, above). The greater part of the other organs could be practically symmetrical, too, in favorable cases with, however, varying frequency. The lowest degree of regulative power appeared in the myotomes and in the rhombencephalon. The most anteriorly situated myotomes were even exceptionless asymmetrical, i. e. completed but imperfectly (figg. 4-b, 7-c); for most of those situated in the trunk and the tail this is likewise the case, in spite of the late date of the formation of the latter (figg. 4-c, 4-d). Sometimes the myotomes of the two sides resulted to be unequal even when the outward appearance of the trunk and tail seemed perfectly symmetrical: it was then found that their structure was of a less compact nature on the completed sides (fig. 4-c). As to the rhombencephalon, it mosdy was distinctly asymmetrical (figg. 5-b,, 7-b), in contradistinction to the often well-developed symmetry of the spinal chord (figg. 2-c, 4-c).

Such differences of size between the two sides are known to occur also with human twins occasionally (Gedda 1951, Testa 1956).

In the six diagnosticahle cases it was found that all the right-hand members of the twins showed situs inversus viscerum, whereas with the left-hand partners only one inverted case was observed, this being a situs inversus cordis.

In the fold formations (poaches) of the transplanted epidermis could be induced the formation of supernumerary organs of an « according-to-region » type, as for instance noses, prosencephalon, eyes, lenses, balancers (fig. 11-b).

The causes supposed to be responsible for the cyclopean and lateral deficiencies are discussed (page 395).

The Author give a detailed description of a rare observation of hypophyseal dwarfism in a monozygous twin.

The patient showed the classic symptoms of dwarfism and infantilism which have produced a discordance in some characters; important and useful are the results obtained from clinical and laboratory data. They have confirmed the diagnosis of zygotism.