bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Note in the Genetics of Koilonychia
Authors: Handa Yoshitoshi , Handa Kazuko , Kosaka Shozo , Mitani Keizo 
Published: July 2016

SummaryOur 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

SummaryThe 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

SummaryA 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

SummaryMeasurement 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

SummaryThe 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

SUMMARYThe 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

SUMMARYThe 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

SUMMARYBy 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

SummaryIn 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

SUMMARYFirst 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

SUMMARYDuring 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

SUMMARYMean 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

SUMMARYTransplants 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

SUMMARYA 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

SUMMARYIn 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

SUMMARYThe 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

SUMMARYThe 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

SUMMARYExaminations 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

SUMMARYBy 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

SUMMARYThe 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

SUMMARYThe 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. SUMMARYData 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

SUMMARYIn 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

Summary87 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

SUMMARYThe « 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 IIn 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

SUMMARYReport 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.