bluuebunny/crossref_metadata_2025 huggingface dataset:
Hairy Ears among the Pahira
Authors: Basu Amit
Published: July 2016

1. Data relating to hypertrichosis of the ear rim, lobe, tragus and antitragus in the Pahira are presented.

2. It has been indicated that (a) hypertrichosis of the rim is associated with that of the lobe, tragus and antitragus, and both may be controlled by the same genotype; (b) it may not be a characteristic of the Mediterranean race alone; and (c) its use as an “anthropological marker” is of limited value.
Filariasis in its Relation to A1A2BO, MN, Kell, Duffy and Rhesus Blood Groups and Secretor Factor
Authors: Anand S.
Published: July 2016

603 patients suffering from filariasis have been studied for A1A2BO blood groups; 281 for Duffy, Kell and rhesus blood groups; 178 for secretor factor; and 503 for MN blood groups, to find out if there is any association between filariasis and these blood groups. No association, whatsoever, has been found between the blood groups studied and filariasis.
Sindrome OFD in un MaschioRilievi sulla Genetica della Sindrome OFD dall'Analisi di 33 Famiglie
Authors: Segni G. , Serra A. , Mastrangelo R. , Polidori G. , Massasso J.
Published: July 2016

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.
Dermatoglyphic Analysis in a Highly Mutilating Syndrome
Authors: Chautard E. A. , Freire-Maia N.
Published: July 2016

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.
Computerization of a Permanent Twin Register: a Basic Tool in Scientific Research
Authors: Gedda L. , Milani-Comparetti M.
Published: July 2016

The Authors report on the steps involved in the computerization (coding of data, card punching and tape recording) of a Twin Register initiated in 1942 and currently approaching 11,000 cases of multiple births.

The Register is permanent in that it involves continued updating of information and addition of new cases. It includes twins of any age, sex, zygosity and health condition.

The experience gained in the reported project can be usefully shared in wiew of international cooperation and standardization.
Genetics in the Soviet Union
Authors: Parisi P.
Published: July 2016

Genetics in the Soviet Union has undergone a profound and long crisis, involving the realm of Biological Sciences and Science and Culture as a whole.

This was not merely due to the emergence of neo-Lamarckian Michurinism, claiming the inheritance of acquired characters to be possible and necessary, and the genotype to be plastic and shakable, especially under particular environmental and physiological conditions: this could have been the object of scientific discussions, probably of a controversy, too, just as one century ago, but would have hardly involved matters of principle and of method in Scientific Research, nor would the controversy have degenerated, absurdly giving rise to a “ Western ” and a “ Soviet Science ”.

Two closely connected factors, equally important and equally witnessing a reject of the principles underlying the scientific method, may be considered as the actual source of this partition of Science, namely:

i) The assumption of a primacy of Ideology, thus making Science be submitted to it, and scientific theories be held right or wrong, according to their fitting or not ideological ones;

ii) Violent political pressures and administrative coercion on scientific thought, and on scientists themselves.

Along with such matters of principle, matters of method in research planning and the formulation of results made it impossible to reach a plain evaluation of Lysenko's theories and results.

Now that a normal athmosphere appears to have been re-established for the development of genetic research in the Soviet Union, rejecting, or ignoring the whole of Lysenko's work, could prove just as wrong as Lysenko's reject of Classic Genetics.
Variation Studies on Plantar Intertriradial Measurements The c-d and direct a-d measurements in Panjabi Brahmans
Authors: Datta P. K.
Published: July 2016

The distribution of c-d and direct a-d intertriradial measurements has been investigated in the plantar dermatoglyphic surface of 100 males and 100 females from the Panjabi Brahman population.

The meam values of both c-d and measurements appear to be smaller in females and ow the rigt sides.

The ‘t’ test reveals that bilateral variation is statistically significant in the c-d measurements, both when the sides are combined or separate.

Sex differences too are statistically highly significant in the c-d and a-d measurements, both when the rights and lefts are studied individually or jointly.
Blood Grouping Tests in Disputed Parentage Qualifications of Experts. II. An Error Involving the Rare Rh-Hr Blood Types RhzRhI and Rhzrh
Authors: Wiener Alexander S.
Published: July 2016

An unusual case is described in which a man was accused of the paternity of a child, and an expert reported him to be type RhzRh1, the mother as type Rh1rh and the child as type Rh2rh, thus excluding paternity. In repeat blood tests, the author confirmed the typing results on the putative father and the mother, but showed the child to be type Rhzrh instead of type Rh2rh, so that paternity was not excluded. Instead, the presence in both putative father and child of the rare gene RZ (or ry) could be considered circumstantial evidence that the accused man actually was the father. It is pointed out that the error could easily have been due to the mistaken use of anti-rhi serum in place of anti-rh′ serum. Such an error would be more apt to occur with a worker using the fallacious C-D-E notations, because the tacit assumption implicit in those notations that each agglutinogen has but a single corresponding antibody (and blood factor) would render unthinkable the concept of more than one kind of anti-rh′ (anti-C) reagent.
Methodological Notes on the Determination of Plantar Main-Line Index and Transversality
Authors: Datta P. K.
Published: July 2016

Methods have been presented for the determination of main-line index and transversality of the distal plantar ridges. For studying the collective main-line formula, a scheme of ‘modal types’ for the four main lines has been introduced. The computation of the summational main-line index has been made possible by devising a scheme of numerical values for the various terminations of main lines D and A. Cases where the main line D or A is abortive or non-existent should be eliminated from the assessment of main-line index. The degree of transversality should be determined from the percentage proportion of the mean main-line index with the maximum possible index.
The Contribution of the « Clinical Twin Method » to the Study of Sex Anomalies in Childhood (Phimosis, hypospadias, cryptorchism, adiposogenital dystrophy Laurence-Moon-Bardet-Biedl syndrome)
Authors: Gedda L. , Raimondo F. Di
Published: July 2016

First of all the Authors stress the importance of twin studies as a method of analysis of the pathological phenomena from a hereditary standpoint: to this aim, the Interzygotic Twin Method may be used in statistical studies, and the Clinical Twin Method in clinical ones. On this basis, the Authors report their observations, on a remarkable number of male twin pairs, affected by anomalies or syndromes including one or more genital dysfunctions, either in infancy or adolescence. Numerous cases of phimosis are thus presented, where the higher concordance in pairs of MZ twins stands for a hereditary conditioning; cases of hypospadias, showing a perfect symmetry of the malformation in the cotwins; cryptorchism, with various possibilities of presentation of the anomaly in the intrageminal comparison. The Authors also describe in detail, making an analytical intra-pair comparison of the symptoms and laboratory data, some cases of complex adiposogenital dystrophy, as well as one case of Laurence-Moon-Bardet-Biedl syndrome with different clinical manifestation in a DZ pair. The longitudinal study carried out over many years on some of the pairs affected by the above mentioned clinical pictures, and the clinico-statistical analysis of the cases under consideration allow the Authors to draw a number of positive conclusions concerning the variable, genotypic conditioning of the sex anomalies considered: in this field, as well as in many others of nosography, the Clinical Twin Method appears to be highly useful in practice, and unique by reason of its peculiarity.
Gravidanza plurigemina monocoriale con complesse Mostruosità fetali: Valutazioni d'ordine genetico e patogenetico
Authors: Dellepiane M. , Macchioni B.
Published: July 2016

A case of monochorial and monoamniotic pregnancy is described. Of the four products of conception, two were apparently normal (stillborn) and two were monsters.

On the basis of current classifications, the latter two can be defined one as acardiacus acephalus and the other as acardiacus amorphus. After presenting the data resulting from all the investigations carried-out (radiography, sex chromatin, histological examinations, injection of the placental and foeto-placental circulation) the etiopathogenetical factors to be examined in determining congenital serious deformities are discussed in relation to the case under examination and on the basis of the most recent findings.

Two etiopathogenetical hypotheses are then suggested, resting on the supposition of a genie lesion which directly conditions either the subdivision into several embryos following ontogenesis or the « monstruosity » of the placental circulation.

On the basis of the results obtained it can be held that further discoveries on the subject will derive from genetics and experimental embryology.
On the Statistical Significance of one Pair of Monozygotic Twins in Clinical Genetics
Authors: Gedda L.
Published: July 2016

A case of one twin pair concordant or discordant as to a given disease is always very important for Clinical Genetics, especially when it is monozygotic. In Clinical Genetics, isolated pairs occur to the physician, and the diagnosis must therefore be based on intra-pair comparison. The statistical treatment of the case must consider the fact that a concordant monozygotic twin pair represents a statistical universe rather than a statistical unit. This entails taking into account many traits concerning the time of onset, the symptoms, development, result of treatment, etc. Suggestions are made for the statistical treatment of such cases.
Aplasia subtotale degli arti superiori in coppia gemellare monozigotica discordante
Authors: Gedda L. , Torrioli-Riggio G.
Published: July 2016

The Authors describe a case of aplasia of the upper limbs in a discordant MZ twin pair. According to the individual and genealogical findings, and especially to the fact that these female MZ twins are discordant, as well as to the caryologic finding, the Authors conclude that the malformation is not genetically induced but possibly originated by blastophthoric factors during the first and second month of fetal life.
Incisor growth in twins during the seventh and eighth months of foetal life
Authors: Stack Maurice V.
Published: July 2016

Weights of mineralized dental tissue have been determined in incisors dissected from ten pairs of twins failing to survive beyond 7-8 months' gestation. Logarithms of weights were compared as ratios (lower/upper) with data from foetuses of similar development. Intra-twin differences were thus shown to be significantly less than inter-twin differences when comparing central incisors. Lateral incisors were too variable to allow this demonstration. The linear regression equation combining logarithms of lower and upper central incisor weights was suitable for estimating foetal age to within one week of the recorded age.
Osservazione sulla trasmissione ereditaria della sindrome di Ellis-Van Creveld
Authors: Zunin Carlo
Published: July 2016

Two personal observations are presented, the former including a pedigree showing both on the maternal and paternal side isolated symptoms of the Ellis-van Creveld syndrome, and the latter consisting in an affected child ensued from a consanguineous marriage, his parents being first cousins. The cases of the literature in which the hereditary component is evident (28 in 49) are also examined. The most significant data from a genetic standpoint are discussed, i. e. the presence of isolated symptoms in the families of the patients, the consanguinity in the parents, the presence of the syndrome in different members of the same sibship. As a conclusion the recessive inheritance, through an autosomal polyphenic gene, is confirmed.
Considerazioni sulle risultanze statistiche delle malformazioni congenite letali e no in Italia dal 1956 al 1958
Authors: Maggiore L.
Published: July 2016

The statistical data on the malformation occurred in Italy from 1956 to 1958 have been examined. It has been seen that their number is almost constant (i. e. some 1,500 per year). The ratio of alive malformed to dead malformed is of 3:1, but the number of deaths by congenital malformations increases considerably during the first year of life, mostly due to inner organ malformations, non detectable at birth.

50% of the cases of harelip die during the first year of life. The most serious malformations are those concerning the central nervous system, while the most common ones, are those affecting the locomotive apparatus.

The number of malformations has not been influenced by the very insufficient diet during the four years of war, neither by the 1957 « asiatic influenza ». The malformation index, furthermore, appears almost constant in the time and in the various regions, showing the highest figure in Lucania and Friuli (3.05) and the lowest ones in Campania (0,89), Sicily and Liguria (1.21).
Considerazioni e Ricerche genetistiche sul Problema degli omoinnesti
Authors: Gedda Luigi , Gentileschi Ezio , Gentileschi Giorgio
Published: July 2016

The Authors describe the results obtained by their studies concerning the reaction of histocompatibility to homografts, the origin of parvicellular infiltration and regional lymphonodular modifications due to a skin graft.

The acceptance or reject of a homograft in rabbit twins makes it possible to establish the presence of MZ twins. As for the parvicellular infiltration, noticed in the case of kidney homografts, according to the researches of the Authors, who have depressed the graft by means of irradiation, it may be assumed that it is originated either from the graft, or from the host.

The study of regional lymph-nodes in the skin homograft in rabbit shows an evident proliferation of the lymphoreticular tissue starting in the very early days, when the graft is viable; in a subsequent stage corresponding to the graft's elimination there is a clear prevalence of plasmocytary elements in the lymphatic cords.

The homograft in mice of the inbred line C57BL6shows the graft's acceptance by tissural reactions equivalent to the ones of the autograft.

The homograft from random mouse on inbred mice shows the absence of a histiocytary lymphonodular reaction of the epithelioid type, which may be observed sometimes in the reaction to the allogenic homograft in the rabbit; it would be then a subsequent reaction not related to histocompatibility phenomena.
Fistola doppia del Labbro inferiore in otto Membri della stessa Famiglia
Authors: Tarsitani D.
Published: July 2016

A relatively rare malformation (double fistula of the lower lip, associated in most cases with cleft lip and palate) has been found to be exceptionally present in eight members (mother and seven children) of the same family.

A survey has been made of present knowledge on the genesis of this malformation, and a genetical interpretation of the observation has been tentatively suggested.

Different data collected on the problem point, in the author's opinion, to an hypothesis which should admit the occurrence of a chromosomal mutation, associated with fusion of the couple of maternal chromosomes, as the most acceptable one.

Exogenous factors, such as, in particular, deficiency factors, could have played a predisposing or facilitating role.
Distribution of papillary Patterns on the middle and proximal Phalanges of Brahmins of Rajasthan
Authors: Kumbnani Harkishin
Published: July 2016

After a careful study and analysis of the various patterns observed on the middle and proximal phalanges on 600 fingers the Author comes to the following tentative conclusions.

1. As it is evident from table I, fingers II, III, IV show a great variability of patterns and among them III and IV have as many patterns as 20 each, while the least degree of variability is observed on thumb, the first finger, which shows only 5 types of patterns. The fifth finger shows 10 different types of patterns. The above number is obtained while counting the pattern present on right and left hands.

2. Among the main types, the pattern Hook predominate exhibiting the percentile frequency of 37.128. Patterns Straight are second in order of preponderance showing the percentile frequency of 24.999. Arches are definitely higher (12.777%) as compared to Enclosures which are 10.554%.

3. The patterns Hook and Straights are more common on fingers I and V, while Arches, Arch Angle and Enclosures are monopoly of digits, II, III and IV.

4. In general it is observed that digits I, II, III bear the patterns which open more frequently on the radial side whereas digits IV and V show the patterns opening on the ulnar side — a natural mechanism which helps a lot in grasping.

5. Comparing the different right-left symmetrical combinations on the finger phalanges of homologous right-left fingers it is observed that digits II, III, and V exhibit a lower number of symmetrical combinations as compared to digit IV, indicating thereby more symmetry in digits I, II, V as compared to digit IV.

6. Comparing the percentile frequencies of various main patterns it can be surmised with certainty that in most of the pattern frequencies Brahmins resemble more to Chinese than to Germans. However, further investigations on these research lines and on many other groups, will not only add to our knowledge but will also help in the race stratification.
Contributo alla patologia gemellare (Rilievi istopatologici su io coppie di gemelli)
Authors: Fiumara Dott. Antonino
Published: July 2016

In an anatomo-pathologic investigation on 21 twins (9 pairs and a set of triplets) who had died within 26 days from birth, the Authors have found a majority of lesions of the respiratory system (in 5 cases hyalin membrane, in 4 bronchpneumonia, in 10 desquamative alveolitis associated with atelectasia, emphysema, congestion, haemorragiae, ouedema and substances ab ingestis). Interval between cotwin death lies between 15-18 hours in 8 pairs, 12 days in one pair, 15-11 hours in the triplet set. The highest frequency of mortality was between the 11th and the 16th day: 55%, which differs from that for single born prematures and immatures. Qualitative and quantitative concordance of lesions was remarkable in seven pairs.

In one pair of twins, who died within 30 hours of each other, only the type of prevailing exsudate differred (leucocytes in one, monocytes in the other), while the degree of the lesions was similar. In another pair of twins, whose death was due to exsudative respiratory lesions, one, dead on the 2nd day, exhibited the symptoms of hyalin membrane syndrome, and the other, dead on the 14th day, the symptoms of bronchpneumonia. The two members of the triplet sets who died first, were affected by an egual degree of desquamative alveolitis, while the third, who died 11 hours later, by a leukocyte bronchial catarrh. With regard to the collected data, the Authors proceed with some considerations.
Reproduction in a Mongoloid
Authors: Stiles Karl A. , Goodman Harold O.
Published: July 2016

Reproduction in mongoloids is a rarity. Allen and Baroff (1955) cite only four reports prior to 1949 which described such instances and Øster (1953) considered the diagnoses uncertain in two of those reports. At least seven more recent instances have been recorded (Le Long, Borniche, Kreisler, and Baudy, 1949; Sawyer, 1949; Forsmann and Thysell, 1957; Rehn and Thomas, 1957; Schlaug, 1957; Mullins, Estrada, and Gready, 1960; and Hanhart, 1960). In four of those cases the offspring were non-mongoloid and in three, mongoloid.

The case described by Rehn and Thomas (op. cit.) is the subject of this report. Because those authors were aware of the present comprehensive study, their diagnoses of mongolism were based on only routine clinical examinations. The purpose in making this investigation was to determine whether or not both the mother and her female offspring were mongoloid. Toward that end the mother and child were examined carefully for the presence of the various stigmata of mongolism. The results of those examinations are presented below.

The mother in the present case was living at home when 19 years of age and would probably not have been committed to an institution had she not become pregnant. She was committed with the diagnosis of mongolism and pregnancy three months prior to delivery and remained a patient at the institution until released on home parole a few months following delivery. Her child was committed with a diagnosis of mongolism shortly after birth and has never been away from the institution. Paternity is unknown, though the mother's father has been suspected.
Saliva and Sweet Taste Perception for Phenylthiourea (P.T.C.)
Authors: Skude Gunnar
Published: July 2016

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.
A roentgenologic and genetic study of a rare osseous distrophy
Authors: Ilha D. O. , Salzano F. M.
Published: July 2016

Description is made of a family of which in three generations five members presented a rare osseous distrophy. Medical information was obtained for about 46 individuals of the 107 who constitute the family. The affection shows resemblances with both the Camurati-Engelmann disease and hyperostosis corticalis generalisata familiaris. It is inherited through a dominant gene.
Saggio di indagine sulla gemelliparità in un archivio parrocchiale
Authors: Gandini Luigi
Published: July 2016

The author made use ot parochial archives for a genetic research. All parochial archives keep the registers of the newborn, the dead, the marriages, the confirmands, the amounting of the population in a parish. According to the canon 1813 (§ 1), these registers are public and ecclesiastical documents, and they form a mine of biological and genetic information too.

In this work the author, by making use of parochial archives in Busnago (Milan), — starting in 1634 — has controlled the proceeding of multiple pregnancies. These appear to have a percentage of 1,53% — superior to that of the Italian population (1, 13%) and to that of the human population officially numbered (1, 25% according to Caullery).

During the three centuries considered by the author, the proceeding of these multiple pregnancies shows a certain periodicity, but, from 1764 to 1804, there is an abrupt fall occuring at the same time of an endemic pellagrous disease. A further inquiry on 23 twin-pairs selected during the last forty years, and a research during the three centuries considered did not show any relationship between consanguinity and multiple pregnancies. On the contrary, this research showed a periodical proceeding of the frequency of multiple pregnancies on the total of the newborn with cusps, every quarter of a century, which seems to support the hypothesis of the existence of a dominant hereditary factor. At last, the greatest number of percentage of multiple pregnancies on the mother's side, as compared with the father's one, makes us think of a hereditary factor on the mother's side.
Anthropologische Beobachtungen an den Kindern einer Inzest-Verbindung Die morphologischen Merkmale des Gesichtes
Authors: Weninger Margarete
Published: July 2016

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.
Consistency of Sweet Taste Perception for Phenylthiourea (P.T.C.)
Authors: Skude Gutinar
Published: July 2016

Eight sweet tasters for P. T. G. found in a preceding investigation were retested with P. T. G. solutions by using a discriminating test method. Variations in the course of a single day and during longer periods were studied. It was observed that the consistency of sweet tasting for this compound varied intraindividually as well as interindividually. One of the females showed a high consistency of taste sensations for different concentrations. Three persons never reported a sweet taste sensation of a supraliminal concentration, although one year earlier they had described different P. T. C. solutions as sweet or sweet and bitter at the same time. The remaining four persons showed a varying consistency of the number of solutions stated as sweet tasting and the concentrations of these sweet tasting solutions. The reasons for the variations of the consistency are unknown. Such inconsistencies influence the result of investigations into inheritance of the trait.
Ricerche sulla Familiarità delle Neoplasie delle Vie Biliari e del Pancreas
Authors: Maltarello A. , Beolchini P. E. , Gualandri V.
Published: July 2016

The AA. have undertaken a study on the familial occurrence of cancer cases in the families of 142 patients with cancer of the biliary ducts, and of 208 patients with cancer of the pancreas, in comparison with the families of equal numbers of healthy persons (controls). On the basis of the collected data, neither for the cases of cancer of the pancreas nor for the cases of cancer of the biliary ducts, a higher incidence of cancer (both same site or all sites) than in the families of the controls has been observed. On the contrary, a significantly higher incidence of cancer of the digestive system has been demonstrated in the families of the two groups of cancer patients taken together.
Anomalie dell'Apparato Urinario nella Sindrome di Morgagni-Turner
Authors: Andreani D. , Menzinger G. , Semprebene L. , Carratù E. , Fallucca F. , Stirati G.
Published: July 2016

20 subjects with Morgagni-Turner's syndrome have been extensively investigated for structural or functional abnormalities of the urinary tract. This investigation was planned owing to the observation by Morgagni, who described the first case of gonadal agenesis associated with a congenital anomaly of the kidneys, and in consideration of the embryological connection between the gonadal and the excretory « Anlagen ». Moreover, to this respect, previous investigations have been very indicative. The patients were subjected to conventional X-ray examination of the urinary tract and to radionephrography with 131 I-hyppuran and, when necessary, to renal scintigraphy with 197 Hg-neohydrin. In a group of patients inulin and PAH clearances were also determined. More than half of the patients had important abnormalities: horseshoe kidneys (5 cases), pyeloureteral duplicity (3 cases), unilateral renal aplasia (2 cases), rotation of the kidneys (1 case); seven further cases showed pyelic dilatation and hypotonia associated with frankly abnormal 131 I-hyppuran nephrograms. 3 out of 4 cases, in which clearance studies were performed, showed marked reduction of glomerular filtration rate and renal plasma flow, even though conventional urography showed no pathological change. It is evident that the urinary tract is very often abnormal in this syndrome; the abnormalities are usually structural, rarely purely functional. Thus, it seems even more justified to indicate the syndrome with both the names of Morgagni and Turner.
Mendelian Genetics Today
Authors: Mainx F.
Published: July 2016

The purpose of this first “Round-table Conference” could well be to present the historical development of human genetics from the early days of Mendelism to the elaboration of modern genetic research. The refinement of methodological possibilities and the unfolding of problems indicate to us the proper lines for further study. With this introduction I should like to restrict myself to a few remarks concerning the role of the gene analytical system of Gregor Mendel in human genetics. If as a result of corrent research the concept of the gene has undergone important alterations and is no longer the closed unit of the classical formulation, it still remains a useful concept for practical research. Every investigation of a genetically active factor immediately begins with the determination of a segregating unit or a mutating unit. Determining an allele relationship or a series of multiple alleles will remain the principal result. Quite often in human genetics it has not been possible to demonstrate these relationships as pseudoallelal or with other methods to achieve a differentiation of the gene concept into its subunits: the cistron, recon and muton. So far the objectives of human genetics the employment of the gene concept as classically formulated is methodologically necessary.

The ideal goal of the gene analytical method is to determine the function of all genes which take part in the heredity of an organism, the preparation of theoretical chromosome maps for the various linkage groups, the determination of the relationships between the genes and their alleles to visible or measurable characteristics of the organism, and the establishment of relationships between phenotypic expression and dominance or epistasis. Its further area of interest is in the genetic analysis of natural populations, the question of spontaneous mutability, the problem of genetic diversity and the polymorphism caused by it in populations, and the equilibrium between all alleles. These questions lead necessarily to general problems of population dynamics, adaptation and evolution.
Sindromi da Eredità Molecolare
Authors: De Toni G.
Published: July 2016

La limitazione del tempo messo a mia disposizione, mi impedisce di illustrare le varie tappe della genetica, intesa come scienza morfologico-descrittiva. Dallo studio delle cellule germinali siamo passati via via a quello dei cromosomi, dei geni, dei loci. A sua volta il gene è stato suddiviso in varie unità indipendenti (muton, recon, cistron). Ma un importante passo avanti è stato compiuto soltanto quando lo studio è stato affrontato dai biochimici, i quali hanno dimostrato che le variazioni strutturali della complessa molecola dell'acido desossiribonucleico (D.N.A.) bastano a spiegare l'enorme molteplicità dei geni, e le loro possibili mutazioni.

Grazie alle scoperte della biochimica noi siamo così passati dallo studio dell'eredità cromosomica e genica a quello dell'eredità molecolare.

Bisogna riconoscere che, in questo campo, i clinici hanno precorso i genetisti ed i biochimici. Spetta infatti al medico inglese Archibald Garrod (1902) il grande merito di avere per primo espresso il concetto che una malattia ereditaria può dipendere da una turba metabolica dipendente da un errore nella sintesi di una molecola proteica. Egli partì dall'esempio della alcaptonuria, alla quale malattia altre ne aggiunse, riunendole nel gruppo degli «inborn errors of metabolism». Questo concetto è stato in seguito allargato, ed anzi alcuni genetisti (Pauling) sostengono che tutte le malattie ereditarie sono dovute a formazione di molecole anormali. Altri autori invece restringono il concetto alle sole malattie nelle quali sono state effettivamente dimostrate mutazioni nella struttura molecolare (come per es. le emoglobinopatie). Io ritengo che convenga scartare sia la defmizione troppo allargata che quella troppo ristretta e di ritenerci autorizzati a parlare di «sindromi molecolari» quando noi ci troviamo di fronte ad una malattia in cui si possa dimostrare o per lo meno presumere che l'alterazione caratteristica risieda a livello di una singola o di più molecole.
Les Acides Désoxyribonucléiques (ADN) et l'Information Génétique
Authors: Brachet J.
Published: July 2016

Ce sont des recherches effectuées sur les bactéries et les bactériophages qui ont apporté la preuve formelle du rôle génétique des acides désoxyribonucléiques (ADN): parmi les nombreux faits qui démontrent ce rôle, il faut surtout citer les transformations bactériennes (Avery) et l'expérience de la «seringue» de Hershey. Dans le premier cas, l'addition à une souche bactériennea d'un ADN spécifique, isolé à partir d'un mutantb, transmet la mutationb, dans un pourcentage élevé des cas, à la descendance; le caractère ainsi acquis se maintient héréditairement. Pour que la transformation s'obtienne, il faut, évidemment, que l'ADN transformant puisse pénétrer dans les bactériesa et s'incorporer dans leur génome. Quant à l'expérience de Hershey, où un double marquage au 35S et au 32P servait à suivre le sort des protéines et celui de l'ADN lors de l'infection de bactéries par des phages, elle a permis de montrer que ces derniers se comportent comme une «seringue» qui injecte la totalité de l'ADN dans la bactérie infectée; en effet, la pénétration des protéines dans ces bactéries est négligeable par rapport à celle de l'ADN. Cette injection d'ADN a pour conséquence la production de particules de phages complètes, présentant les caractéristiques génétiques exactes du phage dont l'ADN provenait.
Zur Populationsgenetik der Haptoglobinserum-Gruppen Allelenhäufigkeit in Europa und Ozeanien
Authors: Baitsch H. , Liebrich K. G. , Pinkerton F. J. , Mermod L. E.
Published: July 2016

In der Populationsgenetik gibt es zwei wichtige grundsätzliche Fragestellungen:

1. Zeigt ein bestimmtes genetisch determiniertes Merkmal Häufigkeitsunterschiede bei verschiedenen Populationen?

2. Wie sind diese Häufigkeitsunterschiede zu erklären?

Die Beantwortung der ersten Frage erfordert, dass man von möglichst vielen Populationen in möglichst vielen Stichproben die Merkmalshäufigkeiten untersucht und Verteilungsparameter schätzt, urn etwaige Unterschiede prüfen zu können. Um derartige Untersuchungen an sehr vielen Stichproben und sehr vielen Personen vornehmen zu können, benötigt man ökonomische und zuverlässige Routinemethoden zur Bestimmung des betreffenden Merkmals. Die zweite Frage kann dann bearbeitet werden, wenn genügend Information über die Häufigkeitsunterschiede bei verschiedenen Populationen vorliegt. Wie sich erwiesen hat, ist diese Frage nach den Ursachen von Häufigkeitsunterschieden oft nur sehr schwer zu beantworten.

Für die routinemässige Bestimmung der Haptoglobinserum-Gruppen haben wir die Methode der Stärkegelelektrophorese, wie sie von Smithies angegeben wurde, so weiterentwickelt, dass ohne grosse Mühe sehr viele Bestimmungen durchgeführt werden können. Wir haben diese Technik ausführlich publiziert; mit dieser Technik haben wir schon weit mehr als 30.000 Bestimmungen der Haptoglobinserum-Gruppen durchgeführt.

Zur Zeit bearbeiten wir vor allem die erste Fragestellung: Welche Häufigkeiten zeigen die Phänotypen der Haptoglobinserum-Gruppen und der ihnen zugrunde gelegten Allele Hp1 und Hp2 bei den verschiedenen Populationen?

Untersuchungen wurden von uns hierzu durchgeführt an Blutspendern aus Bayern, Baden-Württemberg, Nordrhein-Westfalen, Berlin, an Patienten aus verschiedenen Kliniken in Westdeutschland; dann haben wir zusammen mit Herrn Dr. Paidoussis Serumproben von Blutspendern aus Athen / Griechenland untersucht; des weiteren Blutspender aus Ljubljana / Jugoslavien (zusammen mit Frau Dr. Sovdat-Banic), aus Prag / Tschechoslowakei (zusammen mit Herrn Dr. Kout) sowie an einer grösseren Zahl von Blutspendern aus Hawaii (zusammen mit den Herren Dr. Pinkerton und Mermod von der Blutbank von Honolulu).
The Hybrid Specialty of Psychiatric Genetics
Authors: Kallmann Franz J.
Published: July 2016

No matter what our everyday activity in the mental health field, we can say with conviction that the function of a new superspecialty such as Psychiatric Genetics, the subject of this late-morning session, is profoundly influenced by contemporary cultural, social and political conditions as well as by the never-ending challenge of scientific conquests. Evidently, therefore, any attempt to formulate a concise and generally acceptable definition of such a modern hybrid discipline is no less difficult than it is to work in it. Actually, since the two parental sciences deal with equally absorbing, intricate and still rather speculative aspects of human existence and health, it would make little difference here if the given definition were developed within the framework of psychiatry or that of human genetics. What is certain only is the empirical observation that there are very few workers in this particular field of superspecialization, who are not prematurely grey or otherwise debilitated.

In order to facilitate a fruitful discussion despite these considerable difficulties, it may be advisable to use a description of psychiatry and its various schools of psychotherapy, which is plain in its formulation and is focused on appropriate medical concepts and techniques from a professional standpoint. This selective procedure is justified, since in many recent conferences on the functions of clinical psychiatry, increasing emphasis has been placed on two general professional requirements. One of them is that psychiatry should never be “a field apart from other areas of scientific discourse”. The other criterion is that a psychiatrist be “a good physician first and always… capable of acting as the trustworthy friend, the wise counsellor, and the discreet and skillful servant” of people in distress.
A human mosaic involving eye and hair color differences
Authors: Ahuja Y. R.
Published: July 2016

An individual mosaic for eye and hair color is described. Possibly the subject is heterozygous at a single locus with pleiotropic effects on both hair and eye color. It is proposed that a genetic change, most probably a point mutation, occurred in a prospective melanoblast during early development. Migration of the derivatives of this cell from the neural crest into the affected regions would account for the light-colored hair and eye. It is not likely that the present mosaic condition will be transmitted because it is most probably a case of somatic mosaicism.
Osservazioni su una coppia di fratelli mononati, affetti da epidermolisi bollosa semplice e da poliomielite anteriore acuta
Authors: Gionta D. , Marioni R.
Published: July 2016

The authors have described two brothers, both affected by epidermolysis bullosa, struck at the same time by poliomyelitis anterior acuta having identical paralytic manifestations concerning the lower limbs and an almost reversed asymmetrical affection concerning the muscular groups of the upper limbs. Owing to the presence of a congenital desease, the Authors have considered the existence in the above mentioned brothers of a particular predisposition also for poliomyelitic infection.
Xeroderma pigmentosum
Authors: Dorn Harry
Published: July 2016

Following some observations on the pathogenesis and clinical manifestations of « Xeroderma Pigmentosum «, two histologically ascertained cases are reported, as studied in the dermosyphilopathic Clinic of Berlin's Free University.

In the first case it was possible to prove parental consanguinity, already mentioned by Siemens as proof of irregular recessive inheritance. In the second case the lack of sufficient familial information suggests a non-genetic origin. In both cases it was possible to rol out venereal disease as the causin factor, and the disease appeared only after the third year of age, at 10 years in one case, with onset at the cornea. In the latter case the EEG reveals variations indicating the existence of organic brain disturbances which (associated with the ocular alterations) suggests the occurence of a neuroectodermosis.

In any case it would be wise to warn Xeroderma patients that in the case of consanguineous marriage, there is the danger of the recessive disease (latent in both parents) becoming real; otherwise the physician may, after such a marriage, support the possible request for sterilization on the part of the patient.
Contributo allo studio dell'ereditarietà della S. di Marfan. Descrizione di un albero genealogico di quattro generazioni con un matrimonio fra consanguinei affetti
Authors: Capotorti L. , De Benedetti R. Gaddini , Rizzo P.
Published: July 2016

The AA. have studied the pedigree of a family with Marfan's Syndrome (M.S.) including 90 persons of four generations. 37 subjects were examined both from a general and from an ophcalmological point of view. Furthermore reliable informations have been obtained about 13 more subjects related with them. Out of the total of 50 persons about whom the A A. have gathered sufficient evidence, 22 turned out to be affected by « ectopia lentis », 20 by various skeletal malformations, all of them included in the general picture of M.S. In 5 more cases some signs of cardiac involvement have been found. The percentage of affected subjects in the whole family was 40%, whereas the hereditary transmission of this syndrome appeared to be typical of a presumably single autosomal dominant character.

This is the first report in the literature of a consanguineous marriage between two subjects both affected by M.S. Out of 9 children who were born from this couple, 4 presented the M.S. (2 of them in a particularly severe form), 3 died during infancy, one was a stillborn and only one was a healthy individual.

The number of cases of this syndrome described in the medical literature is in continuous increase. Furthermore the growing prominence it is assuming in general medicine, owing to the skeletal, cardiac and vascular anomalies, stimulates to a more thorough knowledge of its hereditary transmission, in the hope of achieving a useful social prophylaxis.
Il Torus palatino: carattere genico
Authors: Hertel A.
Published: July 2016

A survey of the existing literature on the subject reveals that this anatomical variation has been even recently considered as morbid form. All the known information, however incomplete, concerning the shape, frequency, distribution according to sex and age, time of onset and development of the formation, is reported.

Little is known concerning the etiology of this hypertrophy: it has appeared as linked with race groups (Eskimo, American Indians, Mongols) and with family groups.

This appears to be substantiated by the observations — herein reported — made on 12 twin pairs, of which 9 are MZ and 3 are DZ. All nine MZ pairs are concordant as to torus; one of the three DZ pairs is already discordant.

As the concordance of MZ twins for a single trait generally indicates that it is inherited, we can consider tours palatinus as a morphological variation of a hereditary genie trait peculiar of some race — and family — groups.
Etude psychodiagnostique d'un nouveau groupe de triplets
Authors: Schachter M. , Cotte M. Ile S.
Published: July 2016

The Authors report detailed observations on a set of triplets analyzed by means of the Rorschach test as well as by Buck's drawing test. The findings prove the importance of this research in pointing out — with more detail than by current clinical methods — the original traits of the mind of each individual in this set of triplets.
La Sindrome di Marfan
Authors: Betetto G.
Published: July 2016

The Author reports ten cases of affections similar to Marfan's Syndrome and, on the basis of the already rich bibliography, divides them into two groups:

1) cases 4, 5, 6 and 7 appear to suffer from Marfan's Syndrome with all its characters;

2) cases 1, 2, 3, 8, 9 and 10 seem to suffer from another affection, similar but identifiable through some factors such as the different anatomical substratum, possibly the etiopathogenic cause and, mostly, the lack of heredity.

The Author therefore advocates further careful studies of all the factors present in the ascertained cases of Marfan's Syndrome, and the separation of other cases that, much as they may be similar, differ in one or more factors of which heredity is the most significant.
Considerazioni su un caso di due Gemelle Monozigotiche affette da Anemia Drepanocitica
Authors: Perosa L. , Ramunni M. , Manganelli G. , Bini L.
Published: July 2016

The Authors describe the case of homozygous twins affected by sickle-cell anemia. The patients were physically similar and showed identical haematological findings. One of them had suffered often of severe sicklemic crisis during one of these appeared also a noticeable neurological complication.

Therefore the Authors discuss the pathogenesys of sickle-cell anemia according to the modern views.
The Ratio of monozygotic to dizygotic affected twins and the frequencies of affected twins in unselected data - a correction
Authors: Stern Curt
Published: July 2016

Two errors in an earlier paper are corrected. The general conclusions arrived at originally remain unchanged.
La Convergenza Fusionale come criterio di identificazione biologica del Gemello Guida
Authors: Gedda Luigi , Bérard-Magistretti Sandra
Published: July 2016

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.