bluuebunny/crossref_metadata_2025 huggingface dataset:
Malformations Complexes des Membres Supérieurs Associées à une Cardiopathie Congénitale. À propos de six observations
Authors: Emerit I. , de Grouchy J. , Laval-Jeantet M. , Corone P. , Vernant P.
Published: July 2016

The authors report on six patients exhibiting a congenital heart disease and malformations of the upper limbs. In two of them this association is similar to that described by Holt and Oram in 1960: atrial septal defect, heart arrythmia and abnormal thumbs. The other four patients have the same skeletal anomalies but different heart malformations. Dermatoglyphic studies revealed a high frequency of a distal position of the axial triradius and of an equivalent of a simian crease. The karyotypes are all normal. The etiology is discussed.
Studi Cromosomici nella Sindrome di Turner
Authors: Franceschini F. , Dallapiccola B. , Ricci N. , Ventimiglia B.
Published: July 2016

Cytogenetic studies were performed in six clinically typical cases of Turner's syndrome. In five of them an XO chromosome complement was observed. In the sixth case the chromosome number appeared normal, but karyotype analysis revealed the presence of three large metacentric chromosomes similar to No. 3. A diagnosis of presumptive isochromosome for the long arm of X was suggested by the autoradiographic evidence of late replication and by the presence of larger than normal Barr bodies and drumsticks.
R-L Symmetry of Cummins' Summational Main Line Index (1936) and Peculiarites of Asymmetric R-L Combinations
Authors: Sharma A.
Published: July 2016

SUMMARY AND CONCLUSION

Differential trends of R/L Symmetry as shown by the incidences of Symmetry (S) and Asymmetry (A) in Cummins' summational Main Line Index, as based on the Burman material (400 ♂ & 71 ♀) are slightly higher in females than in males. However, these are not statistically significant.

By grouping MLI values in two categories, (a)-5 or 〈 5 and (b)-6 or 〉 6, it is found that MLI values above 6 are largely involved (relative to 5 or 〈 5) in contributing to the incidence of asymmetric R/L combinations of MLI. Further, the male-female differences in the three combinations (a) & (a), (a) & (b), (b) & (b) are statistically significant.
Genetik der Ataxie - Teleangiectasie
Authors: Ferák V. , Benko J. , Čajková E.
Published: July 2016

The syndrome of ataxia-telangiectasia was studied from a genetic standpoint on a material consisting of 7 original cases from four families, and of 31 cases from the literature. A cytogenetic analysis in one patient showed the normal diploid chromosome number, while the application of Brugger's test showed a random distribution of affected members in the investigated sibships. The observed frequency of affected individuals corresponds to the one to be expected, assuming a recessive monofactorial inheritance of the syndrome. Considering the small number of consanguineous marriages observed between parents of affected individuals, the conclusion can be drawn that ataxia-telangiectasia is not so rare a condition as it is generally assumed. The responsible gene shows a pleiotropic and lethal effect.
Research in the Etiology of Down's Syndrome Intricacies and Pitfalls
Authors: Kaplan Arnold R. , Fischer Roland , Zsako Steven , Griffin Frances , Glanville Edward V.
Published: July 2016

Cytological studies have shown that Down's syndrome (“ mongolism ”) is the result of a chromosomal anomaly which occurs either in one of the parent's germ cells or at a very early stage in (embryonic) development of the affected individual. The chromosomal anomaly involves the occurrence of a third number 21 chromosome, in addition to the normal complement of two, either separately (i. e., trisomy-21) or attached to one of the other acrocentric chromosomes (i. e., translocation to one of the chromosomes numbered 13-15 or 22 — Denver Report, 1960). Epidemiological studies have indicated that numerous factors are related to, and may affect, incidence of the chromosomal anomalies resulting in Down's syndrome. Studies by Collmann and Stoller (1962a, b) imply fluctuations of annual incidence with a 5-6 year periodicity, a higher incidence in urban compared to rural areas and a clusteting of affected births in certain geographic regions. Collmann and Stoller postulated an “ infectious agent, probably a virus ”, to account for their data. No connection, however, can yet be drawn between such a hypothesis and the established cytogenetic anomaly. Periodic fluctuations in incidence, which are characteristic of recurrent epidemics (Gordon, 1962), have also been reported for congenital anomalies other than Down's syndrome, such as anencephaly, spina bifida, and hydrocephaly (Collmann and Stoller, 1962b; Guthkelch, 1962; Alter, 1962; Slater, Watson and McDonald, 1964).
Contributo allo Studio delle Basi Genetiche dell'Ulcera Duodenale
Authors: Remelli L. , Serra A. , Gualandri V.
Published: July 2016

Duodenal ulcer is a rather common disease, showing a clear family concentration. The aim of this work was to detect, in the etiology of this disease, possible genetic components, and to study their characteristics. The survey has been carried out by analyzing the data collected in 100 families, assembled by starting from a corresponding number of « index cases », and utilizing for comparison and also further analyzing the data by Doll and Buch (1950) and by Doll and Kelloch (1951). The " secondary cases " found, as a whole, were 109 (90 males and 19 females). The results may be summarized as follows:

1) the frequency of the disease in the sibships, independently from sex and corrected for age, is of 32.5% ± 2.5;

2) the frequency is, however, different in the two sexes. The estimate of this difference has been obtained calculating the relative risk (x) to contract the disease in the males, as compared to the females. Considering all the families together, such risk isx=5.8. However,x=16.7 in the 39 families with both healthy parents;x= 4.0 in the 45 families with the father affected;x= 2.9 in the families with the mother affected;

3) though the analysis of segregation ratios would not allow, by itself, definitely excluding the hypothesis of a monofactorial recessive inheritance, many reasons lead to think of a possible case of « simulated mendelism »;

4) the application of the methods of analysis proposed and worked out, in their theoretical basis, by Penrose (1953) and by Edwards (1960) for the genetic study of common diseases, makes much more probable the hypothesis that the genetic basis of duodenal ulcer is multifactorial. This does not exclude, however, that some particular environmental factors may increase the phenotypical correlation among the brothers — at least in the material under consideration.

Therefore, the hypothesis now allowing the best interpretation of the observations is that duodenal ulcer could be controlled by a number of additive genes with a weak effect.
Su un Caso di Gozzo Normometabolico Concordante in Gemelle Uniovulari
Authors: Macri Corrado
Published: July 2016

A case of puberal goiter in a pair of monozygotic twins is described. The striking similarity in the clinical and laboratory findings, including the histological pattern, is emphasised. The possibility that an hereditary factor plays a part in the pathogenesis of goiter is discussed.
Genetics of Relative Toe Lengths
Authors: Kaplan Arnold R. , Powell Wilma
Published: July 2016

Twin and pedigree data are presented which indicate that relative length of hallux and adjacent second toe is based on simple Mendelian genetic factors. The normal anatomical trait involves two alleles and a single autosomal locus. The factor for relatively long hallux is recessive to the one for relatively long second toe. There is no evidence of sex influence. Penetrance is 100%. Expressivity is variable, and bilateral discordance is observed in a minority of heterozygous subjects. In every such case, the dominant genotype is expressed in the right foot. The recessive and dominant phenotypes occur, respectively, in 76% and 24% of the greater Cleveland area Caucasian population. Gene frequencies in this population are 87% and 13%, respectively, for the recessive and dominant allele.
Ricerche sui Cromosomi umani mediante il Test gemellare (I. Determinazione dell'Indice Mitotico in Coppie MZ e DZ)
Authors: Gedda L. , Brenci G.
Published: July 2016

Mitotic induction in human circulating leucocyte cultures has been studied by the twin method. The study of this phenomenon in 20 individuals belonging to 5 MZ and 5 DZ twin pairs shows that its variability depends on the adopted dose of phytohemoagglutinin, and not on the individual genotype, nor on the characteristics of the single pair, or type of zygosity.
Are vital Twins prematures?
Authors: Gedda L. , Milani-Comparetti M.
Published: July 2016

The Authors have analyzed the data concerning length of gestation and neonatal weigth and length measurements in 2,440 living twin pairs (from the files of the Mendel Institute), in order to verify the frequent assumption that all twins should be considered as prematures and, as such, affected by congenital debility.

Comparing their findings with the standard values for prematures, they reach the conclusion that the majority of twins who have survived the perinatal period were not prematures. Furthermore, the less developed among such twins differ from single-born prematures by reason of their subsequent normal auxologic development, whereby the Authors propose that they should rather be considered as “premature-like”.
Taste Sensitivity to Phenylthiourea among Patients affected with both Tuberculosis and Leprosy
Authors: Beiguelman B.
Published: July 2016

Taste thresholds for phenylthiourea were measured among 58 Caucasoid subjects affected with both tuberculosis and leprosy. The frequency of non-tasters among them (12.1%) is significantly lower than that found among healthy controls (24.7%) but not different from the frequency of non-tasters among tuberculous patients (14.1%) or leprous patients (19.6%). These results suggest a correlation between taste ability to phenylthiourea and the constitutional susceptibility to tuberculosis and leprosy.
Taste Sensitivity to Phenylthiourea and Menstruation
Authors: Beiguelman B.
Published: July 2016

Taste thresholds for phenylthiourea were measured among 100 females, during the menstruation and in non-menstrual period.

The results cannot support any influence of menstruation on taste threshold for phenylthiourea.
Spectral Characteristics of the Voices of Twins
Authors: Alpert M. , Kurtzberg R. L. , Pilot M. , Friedhoff A. J.
Published: July 2016

A study is described in which the spectral similarities in the voices of monozygotic, dizygotic and non-twin controls is compared. The results are based on a statistical comparison of the differences between pairs of individuals at a number of spectral points. The data are interpreted as showing that monozygotic twins are more similar in the higher but not the lower spectral ranges. It is suggested that the lower frequencies are more sensitive to transitory factors while the higher frequencies are more likely to reflect anatomic similarity.
Malformazioni multiple degli Arti in due FratelliConsiderazioni Genetiche
Authors: Santori Francesco S.
Published: July 2016

A sibship is described showing partial aplasias of lower and upper limbs. The concordance of the malformations in the two brothers, the presence in the ascendents of various skeletal and extra-skeletal anomalies, as well as the lack of other causes which could have originated the malformations have made us diagnose the genetic origin of the malformation.
Indagine sulla mortalità dei gemelli nel primo anno di vita: Ricerca anagrafica su 848 gemelli nati a Catania
Authors: Fiumara Antonino
Published: July 2016

A survey has been made of the birth records of 846 twins (415 pairs and 6 sets of triplets) born in Catania between January 1st, 1959 and May 31st, 1962, with the purpose of establishing the degree of mortality in twins in the first year of life. The results indicate a low degree of still-birth (5%). Identifying the neonatal period with the first week of life, the neonatal mortality is of 8.9%. This percentage undergoes a little reduction (1.9%) when we consider as neonatal period just the first day of life, the twin mortality being lower in the subsequent days of the first week. Except that of the 1st day, the higher frequency of mortality (19%) occurs between the 12th and the 16th day, which is considered a critical period in the first month of life in twins. In the remaining 11 months of the year the mortality degre is low (51 deaths in 680 twins survived to the first month). At the end of the year in 63.1% of the considered pairs both twins were still alive. In six of the 43 pairs with both components dead, both twins died between the 13th and the 25th day, with an interval of 24 hours. The spontaneous death of twin pairs, occurring sometimes simultaneously or with a brief interval in the first month of life, may give rise to judiciary mistakes.
Theoretical and observed Frequencies of Fingerprint Pattern Formulae
Authors: Làzaro C. , Kolski R. , Olaizola L.
Published: July 2016

A study was made on the frequency of some dermatoglyphic formulae in a sample of individuals of the population of Montevideo.

The theoretically expected frequency of the ten most common formulae was also calculated on the basis of the incidence of each pattern per finger in the same population.

The comparisons made between observed frequencies and calculated ones show such large differences that they cannot be attributed to chance.

Consequently we conclude that the genetical studies of dermatoglyphic patterns should be made for associations of patterns in two or more fingers or complete formulae rather than for individual fingers.
Clinical Genetics
Authors: Gedda Luigi
Published: July 2016

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

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

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

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

The subject of my paper, however, carries a different name: “Clinical Genetics”, and I would now like to justify its choice.
Immunological studies in an isolate in Hungary: Ivád. Frequency of blood groups, saliva secretion and antibody titers
Authors: Backhausz R. , Nemeskéri J.
Published: July 2016

Data are presented concerning the distribution of the ABO, MN and Rh blood groups and the saliva AB-secretion in the endogameous population ofIvád(Ivády family). Although a greater frequency of the A-, M-, and D-genes was observable, the differences between theIvádyfamily and the surrounding populations from where the family originated, were not significant. Isoagglutinin and bacterial agglutinin titres showed a narrower variation atIvádthan inBudapest. No agammaglobulinaemia or a higher frequency of Rhesus isoimmunization was observable. The most prominent feature of theIvádyisolate was the conservation of the original gene frequencies. The effect of random genetic drift or of selection was not demonstrable as far as the genes investigated are concerned.
Eine neue Blutersippe mit v. Willebrand-Jürgens'scher Krankheit (erbliche Thrombopathie) auf Åland (Finnland)
Authors: Eriksson Aldur W.
Published: July 2016

Another family in the Åland archipelago (Fennoscandia) suffering from a hemorrhagic disorder (von Willebrand-Jürgens' disease, heredi tary constitutional thrombopathie) is described. This family, so far the largest in the literature, has many common ancestors with the original bleeder families on Åland described in 1926 by v. Willebrand. Of the more than 1300 kindred traced genealogically, 132 (71 women and 61 men) in the five most recent generations have had manifest bleeding disorders in their medical history. Of the ca. 450 living relatives of this family 211 could be examined, and of these 56 females and 50 males were confirmed to be bleeders anamnestically, clinically or, and hematologically. Several cases were analysed exhaustively by modern coagulation tests. The clinical and laboratory hemostatic findings varied widely both inter- and intra-individually. Some patients showed a partial lack of a plasma factor (AHG) coupled with a qualitative platelet defect. Other patients of this family without bleeding disorders had a markedly prolonged bleeding time. The vascular disturbances also vary widely. The consanguinity in this pedigree is unusually high. The autosomal recessive in heritance are discussed. According to the mendelian segregation ratio, a not sex-linked, dominant transmission of the hemmorrhagic diathesis was in question. I has been possible to observe the hemostatic disturbances in 4-5 generations. The penetration of the gene is high, the expressiveness is unsteady.
Das Tastleistensystem der Hände und die Beugefurchen mongoloider Personen
Authors: Geipel Georg
Published: July 2016

The dermatoglyphics of 100 mongol patients from Switzerland were investigated. The results are as follows:

1. Worls and arches are more scarce than in normal persons of the European races: 23.7% whorls, 1.0%. arches.

2. The very numerous loops (75.3% are frequently steep and narrow, the ridges tender or dissolved into pearls. Strong ridges often seem to be dismembered.

3. The ridges of the hands in the distal region want of swing and appear tightly stretched. The main line index (Cummins) reaches 10.15, the highest value so far found.

4. The patterns in the balls of the hands are much more numerous than in normal Europeans. The hypothenar pattern is sometimes extremely extended.

5. The axial triradius t”, rare in normal persons, is manifested in 80.0%.

6. The three and five-finger furrows are in nearly 60.0% changed and form more or less clear a four-finger or ape-furrow.

7. In spite of the distinctness of these characters it is not advisable to found the diagnosis of mongolism on them alone; clinical characters are necessary at all events.

6 pictures represent the various forms.
A Note in the Genetics of Koilonychia
Authors: Handa Yoshitoshi , Handa Kazuko , Kosaka Shozo , Mitani Keizo
Published: July 2016

Our study on a kindred of spoon nails found among residents in Wakayama City, shows:

1. The kindred includes 36 affected members extending in five generations (Fig. 1). The seventeen marriages between affected and normal members of the kindred and which have more than two children, produced 29 affected, 16 males and 13 females, and 37 normal children 22 males and 15 females. This 37: 29 ratio falls within the range of the 1: 1 ratio of the affected and normal offspring. The sex ratio of the affected members, 16 males: 13 females, also is about 1:1. Thus, the abnormality seems to be due to a single autosomal dominant gene.

2. The penetrance of the gene in this family is apparently fairly high.

3. Regarding the expressivity of this abnormality, the concavity of nails is not always distinct especially in toes, while the expressivity of the gene in finger nails is more apparent.
A theory on the biology of lateral dominance
Authors: Kaplan Arnold R.
Published: July 2016

The literature and results of studies on the subject of lateral dominance have been reviewed and discussed, and pertinent hypotheses advanced. The various known facts need not be considered contradictory if multiple genetic factors are hypothesized, interacting with an ontogenetic predisposition to left cerebral (and right somatic) dominance, and with various psychological-social factors.
Skeletal Changes in the «Cri du Chat» Syndrome
Authors: Dallapiccola B. , Pistocchi G. , Forabosco A. , Capra L.
Published: July 2016

A radiological investigation was carried out in a group of patients with the “cri du chat” syndrome. The most striking skeletal abnormalities associated with the 5p- chromosome anomaly include microcephaly hypertelorism, narrowing of the wings of ilia, which often appear rectangular in shape. In older patients additional consistent radiological features include large frontal sinuses, malocclusions, scoliosis, shortness of some metacarpal and metatarsal bones. The radiological investigations in the “cri du chat” syndrome, although of small diagnostic aid, appear to be useful for a detailed characterization of the malformations.
Length of the Y Chromosome in a General Male Population
Authors: Zeuthen Eva , Nielsen Johannes
Published: July 2016

Measurement of the Y chromosome has been made in 508 males examined for military service. There was a normal Gaussian distribution of the length of the Y chromosome.

The frequency of mentally retarded males was significantly higher than expected among those with a comparatively large Y (Y/F ≧ 1.00). It is concluded that there may be an association between the length of the Y chromosome and certain types of mental retardation.
Dermatoglyphics in Twins
Authors: Peña Heloisa F. , Salzano F.M. , Callegari Sidia M.
Published: July 2016

The degree of genetic determination of 4 digital and 16 palmar characteristics was investigated in an unselected series of 49 MZ and 51 DZ adult twins. Low indications of heritability were obtained for the qualitative traits, but 6 of the 8 h2 estimates calculated for the quantitative measurements gave values above 0.70. In general, the results reported here are in agreement with those presented by other authors; however, the correlation coefficients observed for the A′d ridge count were lower than those of two other series. All palmar ridge counts seemed to be intercorrelated in a given individual; other expected relationships, however, were not observed. The fingerprints of MZ and DZ twins on the other hand, showed an unexplained difference.
Pharmacogenetics
Authors: Price-Evans David A.
Published: July 2016

The term Pharmacogenetics is defined as the study of genetically determined variations in animal species which are revealed by the effects of drugs.

I am going to deal with examples of these variations which have been found in Man. I must apologise for a certain amount of repetition of some facts which have already been aired in this conference, but it is my intention to give you a bird's eye view of the subject.
Su alcuni casi di Balbuzie in coppie gemellali mono- e dizigotiche
Authors: Gedda L. , Braconi L. , Bruno G.
Published: July 2016

The Authors present two MZ (one ♂ ♂ cf and one ♀ ♀) and four DZ (two ♂ ♂ and two ♂ ♀) twin-pairs aged from 7 to 12, selected among the Institute's pairs, as representing different etiopathogenetic mechanisms of stammering.

After summarizing the literature on the inheritance of logopathy, the Authors discuss the clinical cases and draw the following conclusions:

a) Stammering does not always follow the laws of dominance and recessivity;

b) There is no evidence of a sex-linked transmission;

c) Other logopathies, like battarism and tachylalia seem to possess a common substratus with stammering.
Scintillatio nivea senile del Vitreo a carattere familiare
Authors: Tittarelli R.
Published: July 2016

The author reports cases of senile Scintillatio nivea of the vitreous present in the same family (one sister and two brothers). This is the third observation of familial cases of vitreous scintillatio; the first observation was noted in 1937 by Bietti. These familial cases of senile Scintillatio nivea of the vitreous make one suspect that metabolic disturbances are present on a constitutional basis in these familial subjects.
Sulla Regolazione Genetica del Colesterolo Ematico (Uno studio su 50 coppie gemellali MZ e 50 coppie DZ)
Authors: Gedda Luigi , Poggi Domenico
Published: July 2016

By dosing the serum-cholesterol in basal conditions in 5 0 MZ (25 ♂ ♂ and 25 ♀ ♀) and 50 DZ (16 ♂ ♂ 18 ♀ ♀ and 16 ♂ ♀ ) twin-pairs, the Authors found an intra-pair dissimilarity significantly different among the pairs of the two zygosity groups. On this basis, the genotypic origin of cholesterol biogenesis is pointed out. The twins, aged from 6 to 19, were all living with their respective families: nutrition and environment were thus the same for each pair.
Studies in race crossing. IX. Crosses of Australians and Papuans with Caucasians, Chinese, and other races
Authors: Gates R. Ruggles
Published: July 2016

In continuation of the series of studies of racial crosses, this paper gives a genctical account of various race hybrids, in which Australian aborigines or Papuans are involved with Chinese, Malayans or Filipinos. Several families are traced through four or five generations, and some involve three or (in one case) four different races. Most of these racial combinations have not been studied previously.

The racial characters recorded in Tables include colour of eyes, hair, eyebrows, eyelashes and skin, form of hair and measurements of head and of ears. In addition various observations of brow ridges, orbits, eyefolds, nose, lips and mouth were made. The Mongolian brachycephaly is strongly inherited from male Chinese ancestors; also the eyefolds, especially the top fold, which is more or less independent of the epicanthic fold. In Malay crosses the face and head are often very narrow. Marked segregation in sibs can occur in head form (cephalic index), hair colour, hair form, skin colour and other features. It has already been shown that in the F1 of aborigines × White the skin is near white. The same is true of Papuan × White, and in addition the child's hair is flaxen or very light brown although the Papuans appear to have always black or near-black hair.

Incidentally, it was also observed that the Papuans not infrequently have marked brow ridges, depressed nasal root and sunken orbits like the Australian aborigines, indicating common elements in the ancestry of these two races.

The Papuan nose, commonly with an overhanging tip, differs in some respects from the Semitic nose, and appears to be an independent (parallel) development.

All contrasted human racial characters, such as hair form and colour, head shape, brow ridges, nasal root depression, size of ear and of mouth appear to depend on a small number of cumulative genes, generally without dominance. In how far these are alleles or based on genes at independent loci can only be determined by further investigations.
Una rara malformazione ereditaria del gruppo delle brachidattilie: la brachitelefalangia. Studio radiologico e tentativo di inquadramento genetico di un caso
Authors: Garibaldi Giorgio , Gugliantini Pietro
Published: July 2016

First of all the authors summarize their present knowledge on the « brachydactylies », which consist of a large group of hereditary and congenital anomalies characterized by the shortness of two or three phalanges or metacarpi of the hands or feet. Then the authors describe a case of « brachytelephalangy » (shortness of terminal phalanges). The case concerns a boy of seven, who has brachytelephalangy in the 1st, 2nd, 3d and 5th fingers and the 3d, 4th and 5th toes. Alterations are bilateral and completely symmetrical.

The authors relate the radiologic aspects of the examined case, and, after having expressed a personal morphogenetical hypothesis on the radiologic picture itself, describe the genealogical tree of the patient. The hereditary nature of the malformation itself, which we find in other six members of the same family, is confirmed by a critical examination of this genealogical tree and by the study of the « Genius Familiaris » of the malformation, according to Gedda's conception.

The authors explain, then, the differential diagnostic criteria of the affection and, after having called the attention to some morphologic and clinical features of the examined case, they end by mentioning the rarity (only three cases in the previous literature) and the interest of the anomaly resulting from this radiologic-genetic study.
Investigations on taste blindness with thiocarbamides II (1). Intra-pair discrepancy of taste in pairs of identical twins
Authors: Verkade P. E. , Wepster B. M. , Stegerhoek L. J.
Published: July 2016

During the World Twin Congress held at Eindhoven (Netherlands) in 1957 we tested 70 pairs of identical twins for their ability to taste para-ethoxyphenylthiocarbamide (EPTC). In 2 pairs a clear intra-pair discrepancy of taste was encountered. The tests with these 2 pairs were continued weekly for about six months. The result was always the same. One member of the pair found a bitter taste even in a solution 1:320,000 of EPTC; the other member considered even a solution 1:5,000 of this compound, i.e. a solution of the «taste blindness threshold concentration», completely tasteless. The former is a «taster», the latter is a «non-taster».

A similar intra-pair discrepancy in taste with regard to phenylthiocarbamide (PTC) in pairs of identical twins has been found by Ardashnikov c.s. and by Rife.

The ability to taste certain thiocarbamides without doubt being a hereditary property, the discrepancy of taste found must have an exogenic cause, the nature of which is unknown.

The fact in question is discussed on the basis of the well-established bimodality of the taste threshold concentration/frequency curve for thiocarbamides. It is pointed out that the «non-tasters» of the pairs of identical twins under consideration must be regarded as «crypto tasters». Their taste threshold concentration lies on the «wrong» side of the (more or less arbitrarily adopted) «taste blindness threshold concentration» (1:5,000 for EPTC and PTC).

The consequences of the existence of «crypto tasters» and also «crypto non-tasters» for work in the field of genetics with the aid of appropriate thiocarbamides are briefly indicated.
The mean Frequencies of Blood Group Genes in Sweden with special Regard to the Rh Genes
Authors: Jonsson Bengt
Published: July 2016

Mean frequencies of the Swedish blood group genes of the A1A2BO, MN, P and Rh(CcDE) systems are given with special regard to the Cwand Dufactors. The frequencies are calculated from materials of non-related, adult persons, mothers and alleged fathers in paternity cases, which materials must be regarded as free from any clinical or other influencing blood group selection.
Devenir du marquage sexuel du noyau dans les transplants hétéro-sexuels de muqueuse vésicale
Authors: Caratzali A. , Ghidus-Marinesco de E. , Marin D.
Published: July 2016

Transplants of vesical mucous tissue in the dog to an animal of opposite sex keep their own sex karyotype.

This seems to prove—to the contrary of what takes place for leucocytic sex corpuscles—that the sex karyotype of some cells does not undergo alterations under the action of hormone impregnation.
Problemi di Genetica Oculistica: VI. Atrofia Ereditaria Progressiva dell'Iride
Authors: Gedda Luigi , Bérard-Magistretti Sandra
Published: July 2016

A family beloging to an isolated locality of Latium and comprising 362 subjects was studied. Among these subjects 63 cases of variably complicated iris atrophy, which the Authors distinguish in three degrees according to the severity of the disease, were found and studied. From the nosological point of view, glaucoma and hydrophthalmus proved to occur as secondary manifestations of the iris atrophy in this family. From the genetic standpoint it was confirmed that the transmission of the disease occurs by a dominance trait and that it probably corresponds only to a couple of autosomic allelomorphs. The penetrance seems to be almost complete, while the expressivity may be very variable.
Problemi di Genetica Oculistica: III. Ipertropia da occlusione di Verhoeff bilaterale concordante in gemelle MZ
Authors: Gedda Luigi , Bérard-Magistretti Sandra
Published: July 2016

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.
Analisi dell'influenza esercitata dalla Televisione sull'angolo e sull'ampiezza di fusione (Ricerca praticata sopra 50 coppie di gemelli)
Authors: Gedda Luigi , Magistretti Sandra
Published: July 2016

The Authors have studied the influence of angle televisive spectacle on both angle and amplitude of visual fusion in 50 twins. Television appeared to produce an increase of the simultaneous macular perception and a marked change of fusional convergence and amplitude. Furthermore, it increases the fatigability of individual convergence.

The twins method, employed by the Authors, has demonstrated that the televisive effect acts on a hereditary background, involving also hereditary mechanisms.
Observations on the So-Called Sex Chromatin in Man
Authors: Reitalu Juhan
Published: July 2016

The difference in nuclear structure between male and female tissues in man has been examined in liver tissue from three embryos of each sex. The so-called sex chromatin consists of a large heterochromatic segment of the X chromosome, thus existing in duplicate in female diploid cells. The two segments have a tendency of juxtaposition resulting in a larger heterochromatic body in female than in male cells. Beside the large heterochromatic segment the X chromosome has, in the tissues studied, a euchromatic segment attached through a small terminal heterochromatic knob to a nucleolus. In male cells the euchromatic segment of the X chromosome is often joined terminally to a small heterochromatic segment believed to belong to the Y chromosome.
Ueber die Fähigkeit, die Zunge um die Längsachse zu rollen
Authors: Vogel Friedrich
Published: July 2016

Examinations of 92 monozygotic and 83 dizygotic twin pairs and 27 families with 78 children have given the result that the ability « tongue curling » is to a certain degree, but not exclusively hereditary. Furthermore, some people are able to learn it. Hence, it is not an unconditionally constant individual trait. By a somewhat more exact functional analysis it is shown that the alternative distribution in the population is counterfeinted only. Hence, there is no evidence for the monomere inheritance lati in Groningen e Drenthe (due supposed by some authors.
Rotgrün-Blindheit bei einem heterogametischen Schein-Mädchen, zugleich ein Beitrag zur Genetik der heterogametischen Pseudofemininität
Authors: Lenz W.
Published: July 2016

By cytological diagnosis of chromosomal sex it has been shown, that about 80 per cent of all cases of gonadal dysgenesis are genetically male. In about 8 per cent of male individuals various defects of red-green sensitivity may be expected. Deuteranopia was observed in a hetero-gametic pseudo-female with testicular dysgenesis. Tests for colour vision should be made in all patients with the syndrome of testicular feminization. From such tests a decision may be expected between sex- linked recessive and autosomal dominant transmission with sex limitation.
Paracinesia adduttorio-enoftalmica gemello-familiare e albinismo oculare in altra famiglia
Authors: Gedda Luigi , Magistretti Sandra
Published: July 2016

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.
The Relation between Stature and Parental Birth Place
Authors: Beckman Lars
Published: July 2016

The relation between stature and parental birth-place was studied in samples of Swedish conscripts from three different geographical areas. In North Sweden conscripts with both parents born in the same parish have a significantly lower average stature than conscripts with parents born in different parishes. In Central Sweden the reversed picture was found and in South Sweden no significant difference was found.
On the Inheritance of Poly- and Syndactylies in Man
Authors: Beckman Lars , Widlund Lena
Published: July 2016

4. SUMMARY

Data on the occurrence of poly- and syndactylies among 64793 newborn children were collected from the hospital records of two different Swedish hospitals, one being located in the North and the other in South Sweden. Frequency estimates are given for the different types of anomalies and the families of 35 probands were studied.

Some pedigrees were compatible with dominant transmission of the traits, while in others the mode of inheritance is irregular. There was no evidence for Y-linked syndactyly. In several cases it was found that a proband with Polydactyly had relatives with syndactyly and vice versa. Some pedigrees included also individuals with reductions of phalanges and fingers.
La valutazione genetica dell'atleta
Authors: Gedda Luigi
Published: July 2016

In a lecture to a group of physicians of sporting societies the Author presents the phenomenon of the family habit of sporting practice as the signo of the existence of a hereditary basis for sporting proficiency.

Referring to research by other Authors, and especially by Grebe, the Author relates the most significant case histories of family sporting practice afforded by Italian sports.

The hereditary transmission probably takes place through a mechanism of dominance; the Author suggests the method which can be employed in order to enact a genetical study of sports and of athletics.
Infantile hypertrophic pyloric stenosis: data on 81 pairs of twins
Authors: MacMahon Brian , McKeown Thomas
Published: July 2016

87 affected twins (in 81 pairs) were identified among 3,982 children with pyloric stenosis. The proportion of twins among affected (1 in 46) is about the same as in the general population of births. The incidence of pyloric stenosis in partners of affected twins is 8.6 per cent, considerably higher than in the general population of births (0.3 per cent) but only slightly higher than in subsequent sibs (5.8 per cent).

The frequency of concordance is about the same in MM (4 of 31) and MF (2 of 23) pairs. Of 39 like sexed pairs 4 were concordant; the expected number of monozygotic pairs is 18 (assuming the usual proportion of monozygotic pairs), which suggests that the frequency of concordance among them is not greater than 4 in 18. It is shown that the distribution of MM, FF and MF pairs in the series corresponds closely to the distribution expected in a twin universe which contains the usual proportions of monozygotic and dizygotic twin pairs.
Der Individuelle Musterwert der Fingerleisten und seine Vererbung
Authors: Wendt G. G.
Published: July 2016

The « Individuelle Musterwert » is stated 1951 by Brodhage-Wendt. This cipher can easily be computed from the ten fingerprints of a person.

In 100 monozygotic and 100 dizygotic twins and in 348 couples of parents with 991 children is demonstrated, that this cipher is a qualified measure to indicate the heredity of fingerprints. Furthemore the applicability of the « Individuelle Musterwert » in twindiagnosis and paternity tests is shown.
Comments on the Analysis of Twin Samples—I. The Parent Population
Authors: Allen Gordon
Published: July 2016

Summary, Part I

In estimating twin frequencies from birth and mortality data, it is necessary to make some statistical corrections, the extent of which is demonstrated for the general population of the United States. In this population, twins constitute 2.19 per cent of all babies born since 1928. This rate is reduced to about 1.9 per cent by excess twin mortality within the first year of life, while the 2:1 ratio of same-sex to opposite-sex pairs observed at birth remains virtually unchanged. Later mortality reduces the proportion of males, but not to such an extent — even at age 75 — as to necessitate modification of the 1:1 sex ratio in estimating the proportion of monozygotic pairs by Weinberg's differential method.

After the first year of life, there is no evidence for a significant difference between the mortality rates of twins and nontwins, so that the proportion of twin individuals in the population may be assumed to remain nearly the same at all ages. However, as pairs are broken by mortality and migration, the number of intact pairs is reduced at successive ages. Among people who survive to an advanced age, the relative frequency of pairs represented by at least one twin may be nearly twice as great as at birth. For comparative purposes, therefore, the most useful way to express twin data is in terms of individuals rather than in terms of twin pairs.
Ein autosomal-dominantes Strukturmerkmal der menschlichen Iris
Authors: Waardenburg von P. J.
Published: July 2016

Report of 2 pedigrees during 4 and 3 generations respectively, whose members have been investigated by the author personally with the splitlamp. In addition to these pedigrees some more smaller families were examined and compared with communications from the literature. All this leads to the assumption that the lacunar type of irisstructure with its irregular and more peripherically situated irisfrill, as a result of increased reabsorption of the iridopupillary membrane, is an autosomal trait, which behaves like a single dominant. The iris with a more continuous boundery layer and an irisfrill which is situated nearer to the pupil is recessive. It will be necessary in future to settle the genetic background of the subtypes of both contrasttypes, mentioned above.
Frequency of Clinodactyly in Children between the ages of 5 and 12
Authors: Marinis F. De , Marinis M. R. De
Published: July 2016

A study of fingers characteristics was made on 1387 school children.

1. Clinodactyly (5th finger) with an angle of inclination of 21.3 ±0.7 degrees, was found in 15.2% of the male and 8.06% of the female white children between the ages of 5 and 12. These represent the heterozygotes of the population, Cc, while the extreme form of clinodactyly, with an angle of inclination of over 30 degrees, most likely represents the homozygotes of the population, CC.

2. Curved index finger (2nd) occurs less frequently than clinodactyly (in 2.22% of the group studied).

3. Flexed little finger (5th) occurs least often, about 1 in 320.

4. Bilateral penetrance ratio has been defined. Clinodactyly has a bilateral penetrance ratio of 0.77 in males and 0.64 in females. The curved index finger has a bilateral penetrance ratio of approximately 0.75.

5. Clinodactyly also occurs in Negro children.

6. An instrument is described for measuring the angle of inclination of clinodacyly.
The assimilation of the descendants of immigrants
Authors: Gini Corrado
Published: July 2016

RIASSUNTO

Stranieri appartenenti a diversi gruppi etnici si sono stabiliti nell'Italia meridionale da qualche secolo: Albanesi, Slavi, Greci, Zingari, Provenzali, Valdesi. I risultati di una ricerca antropometrica sui soldati italiani delle classi 1859-63 dimostrano che i loro discendenti non presentano differenza alcuna dalla popolazione circostante nelle caratteristiche fisiche esaminate (indice cefalico, statura, pigmentazione).

Per decidere se l'assimilazione sia stata la conseguenza di incroci oppure dell'influenza, diretta od indiretta, dell'ambiente, il Comitato Italiano per lo studio dei problemi della popolazione (C.I.S.P.) ha organizzato nel 1938 una ricerca accuratamente eseguita in tre villaggi albanesi della Calabria, esaminandovi i caratteri degli abitanti, suddivisi — in base alle loro genealogie — secondo la percentuale del sangue albanese o calabrese. Ne è risultato che non vi sono differenze considerevoli nei caratteri dei diversi gruppi, ciò che porta a pensare che la assimilazione si è effettuata indipendentemente dagli incroci e per conseguenza sotto l'influenza, diretta ο indiretta, dell'ambiente.

Anche in Sardegna, a Carloforte e a Calasetta, ci sono due colonie di Italiani del Nord (Liguri e Piemontesi) che vi si sono stabilite più di recente, quasi due secoli fa. All'epoca della suddetta ricerca antropometrica esse presentavano differenze ben chiare dalla popolazione contigua. Quattro missioni scientifiche, organizzate dal C.I.S.P. nel 1939 e 1940 e nel 1952 e 1953 hanno posto in luce che, da allora, si è prodotta una considerevole assimilazione, la quale risulta pure essersi accentuata dal 1939-40 al 1952-53.

Durante le due ultime missioni, sono state effettuate ricerche supplementari per rendersi conto del meccanismo con cui avviene l'assimilazione. Per Carloforte, si è potuto notare una selezione riproduttiva, che ha l'effetto di ridurre sempre più i discendenti degli antichi coloni liguri; ma non si è potuto confermare un fenomeno analogo per Calasetta. Si esamina la possibilità che nelle due colonie la assimilazione si produca attraverso una intensificazione della dominanza della pigmentazione bruna sulla pigmentazione chiara degli occhi e dei capelli e che delle mutazioni a carattere adattivo si producano sotto l'influsso ambientale.
Serology, genetics and nomenclature of the M-N-S types
Authors: Wiener Alexander S.
Published: July 2016

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

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