bluuebunny/crossref_metadata_2025_split huggingface dataset:
A case of trisomy 18 – clinical syndrome with chromosomal mosaic
Authors: de Toni E. , Massimo L. , Vianello M. G. , Dagna-Bricarelli F. 
Published: July 2016

SUMMARYA case of a female newborn, followed up to the 9th month of life, presenting a clinical picture of multiple malformations, typical of trisomy-18, is reported by the AA.: microcephaly, low set of ears, micrognaty, ogival palate, superabunding skin in the neck, simian crease, typical hands attitude, luxation of the right hip, severe neurological symptomatology with the characteristic rigidity and, finally, an extremely severe mental defect.Growth has always been very poor; death occurred at the 9th month of life.Chromosome research, done with two cultures of capillary blood, revealed the presence of two lines of normal and trisomy-18 cells in similar percentage.The literature concerning the subject is examined and discussed.
Virus et Hérédité. Importance de leurs rapports dans le domaine ophtalmologique avec regard au Trachome du point de vue génétique
Authors: Bietti G. B. , Gedda L. , Vozza R. , Brenci G. 
Published: July 2016

SUMMARYHeredity in viroses has to be considered (i) from the standpoint of the specific virus which, like any living organism, presents heredity, variability and mutation, and (ii) from the standpoint of the human host, where the receptive conditions may be genetically controlled.The heredity of disposition to poliomyelitis is also witnessed by the results of Gedda's twin clinical method as well as by the proportionality between the consanguinity ratio and the ratio of concordance of the infection in the family.The heredity of disposition to trachoma has been studied in 775 families from Eritrea, the disease having been examined in parents and children. Statistic and genealogic analysis shows the existence of a disposition. The mating of an affected father to a nonaffected mother does not alter the frequency of the affection in the children, as compared to the case of the children of both nonaffected parents. On the other hand the affected father makes the frequency of the affection significantly rise in the children when mated to an affected mother. Such a behaviour is explained through a more frequent disposition in the children of parents both affected by one and the same disposition.The study of the sample through the dimensions of the sibship, showing a constant nonaffected-affected ratio, independently from the above dimensions, also leads to assuming the existence of a disposition. This sharply contrasts with the epidemiologic concept of a higher risk, the higher the number of sibs.
Studio Genetico sulla Ipertensione Essenziale e sui suoi Rapporti con la Cefalea Vascolare
Authors: Malfanti P. L. , Bigozzi U. , Massi A. , Conti C. 
Published: July 2016

SUMMARYA genetic study on a sample of patients suffering from essential hypertension has confirmed the inheritance of this disease. In single individuals and in families, especially in young female subjects, the same hereditary load often leads to the appearance of a vascular headache. In some family groups, the vascular headache seems to occur more frequently than in others. This fact suggests the hypothesis of a possible existence of factors able to favour the appearance of this trouble. After considering the data collected from the study of three generations of relatives of the hypertensive propositi, it seems possible to state that the hereditary load usually develops into vascular headache in young age, and hypertension in old age, while headache tends to disappear. This pattern, usually frequent, is not quite constant, and, in the same families, it is possible to find subjects affected with hypertension only, and others (also in old age) with headache only. Therefore, it is possible to think that the abovementioned diseases are pleiotropically determined by the same genetic factors, occurring in different ways, according to age, sex and other genotypic factors. The statistical analysis of the collected data suggests that such disease be inherited as a dominant monomeric autosomal trait, with a higher penetrance in old than in young people. Headache seems to prefer female subjects, while hypertension does not show any sex-preference.
Human Monozygotic and Plurizygotic Multiple Births: Heredity and Hormone Action
Authors: Gedda L. , Brenci G. 
Published: July 2016

SUMMARYThe Authors take once more into consideration the problem of the hereditary nature of twinning on the basis of their own studies and of recent findings on human twinning induced by human menopausal gonadotropin (HMG).Personal studies concern 3,221 cases of twinning drawn from the special files (“Gemelloteca”) of the Mendel Institute. On the basis of this material the Authors state that the occurrence of the cases of twinning in the paternal and maternal ascendancies of the twin index cases is significantly more frequent than would be expected in proportion to the frequency of twinning events in the Italian population.This finding is in agreement with the hypothesis of the hereditary nature of the twinning phenomenon.The same material is used to compare the frequency of twinning in the paternal and maternal families of twins. The observed frequency in the maternal families is significantly higher than in paternal families in which the frequency approximates population values. This finding leads the Authors to formulate the hypothesis that the twinning trait is limited to the female sex and is presently manifested by the occurrence of twins in the next generation. Thus studies on the frequency of twinning as a hereditary phenomenon should be based on the families of the mothers of twins.Original studies also concern the 1,105 triplet sets born in Italy in the years 1952-1961. A study of the experimental and theoretical distribution of sex combinations in this triplet material allowed the Authors to prove that the experimental distribution differs from the theoretical one, based on the hypothesis of independence of the two types of zygosity (MZ and DZ). The absence of independence is considered a proof of the hereditary singleness of twinning.The Authors further take into consideration cases of twinning induced in sterile women by administration of human menopausal gonadotropin (HMG): they observe that cases reported to date seem to be limited to dizygotic or plurizygotic twinning. These findings lead the Authors to believe that in this case hypophyseal FSH, responsible for ovulation, fails to find the usual pathway leading to standard uniparous pregnancy in the human species; the mechanism involved in such pathway is the object of some hypotheses of a hormonal nature. The Authors also believe that FSH stimulates not only the follicle but also follicular gametogenesis and even perhaps the division of the fertilized egg resulting in MZ twinning.
Phocomelia and Trisomy E
Authors: Zellweger Hans , Huff Dale S. , Abbo Gisela 
Published: July 2016

SUMMARYA case of trisomy E with phocomelia of one arm is presented and the hitherto reported cases of trisomy E with phocomelia are listed. The different causes of phocomelia are discussed. Similarities and dissimilarities of the clinical picture of conditions associated with phocomelia are presented.
Le Aptoglobine in Antropologia. Contributo alla loro Conoscenza in Italia
Authors: Spedini Gabriella 
Published: July 2016

SUMMARYPresent status of genetic and anthropological knowledge concerning haptoglobins, and report on the results of a survey carried-out on 141 subjects from Campania: Hp 1-1, 15 (10.6%); Hp 2-2, 60 (42.6%); Hp 2-1, 66 (46.8%); gene Hp1, 34.1%, gene Hp2, 69.1%.Furthermore, a geographical peculiarity of haptoglobins is stressed, i.e. a rise in the frequency of the Hp2 gene from Westward to Eastward.
The Iron-Binding Capacity of Thalassemic Individuals
Authors: Hampe O. G. , Rocha F. J. da 
Published: July 2016

SUMMARYA description is made of a Caucasian family of Lithuanian and Italian ancestry living in Pôrto Alegre, Brazil, in which there is segregation of the gene which conditions the type of thalassemia which does not raise the fraction A2. The information obtained involves four generations in a total of thirty four individuals, eight of which were examined. Tests about the concentration of serum iron and the iron-binding capacity of thalassemic individuals resulted normal.
Hemophilia B in a Pair of Monozygotic Negro Twins
Authors: Roisenberg Israel 
Published: July 2016

SUMMARYA detailed description is given of the study performed in a pair of monozygotic Negro twins both suffering from hemophilia B; the bibliography is also reviewed about the occurrence of hemophilia in twins. The zygosity determination was performed utilizing anthropometric measurements, observation data, finger and palmar prints, seven systems of blood groups and five other genetic systems. The twins present a great similarity in the hemorrhagic symptoms, coagulation tests and Christmas factor level, but morphologic and physical differences due to the disease. These differences are explained by the diversity in the medical-hospital care which both received.
Malformazioni congenite multiple associate ad una doppia Anomalia cromosomica: Triplo-X e Trisomia 17-18
Authors: Ricci N. , Castoldi G. L. , Borgatti L. , Alberti R. 
Published: July 2016

SUMMARYA female baby, showing the characteristic malformation pattern of the 17-18 trisomy syndrome, was found to have two extra chromosomes in groups 6-X-12 and 17-18, respectively: the presence of double drum-sticks and of double Barr bodies leads to interprete the karyologic finding as a triple-X + 17-18 trisomy. Autopsy showed an interventricular septal defect and an abnormal histological structure of the ovaries.
Incidenza dei Fattori M, N, S, s e P in un Campione di Popolazione romana
Authors: De Bartolo M. 
Published: July 2016

SUMMARYM, N, S and P factors have been studied in a selected sample of the Rome population. A comparison of the findings with the sofar available data shows that the distribution of the examined factors is not influenced by the variations of the geographic position in Italy. The frequency of the « s » factor also appears to be greatly higher than that of « S ».
Runting in the Offspring of Mice inoculated with homologous or heterologous Bone Marrow
Authors: Cardinali Giuseppe , Cardinali Giuliana , Enein Mostafa Aboul 
Published: July 2016

SUMMARYRunts were observed in the offspring of mice which were injected, when newborn, with foreign bone marrow cells. The incidence of runting in the litters obtained from crosses betweeninjected femalesandinjected maleswas higher than in the litters obtained from crosses betweeninjected femalesandnormal males.
Agénésie Sacrococcygienne et Syndrome de Bonnevie-Ullrich Étude Génétique et Chromosomique
Authors: Emerit I. , de Grouchy J. , Corone P. , Vernant P. , Laval-Jeantet M. 
Published: July 2016

SUMMARYA child, aged 11, with female phenotype, associating a sacrococcygeal agenesis to Bonnevie-Ullrich's syndrome, without gonadal dysgenesis, is described. The patient's caryotype is a normal female one (44 A, XX). No similar cases could be found in the literature.This association of two syndromes of undetermined origin is probably fortuitous. A genetic study of 65 pedigrees from the literature did not reveal a mendelian type of inheritance. The possibility of external factors having occurred during embryonic life is discussed.
Aspetti genetici dell'omosessualità
Authors: Gedda L. 
Published: July 2016

SUMMARYThe Autor gives a genetic interpretation of homosexuality. A first division may be done between homosexuality cum materia and sine materia. For instance we speak of homosexuality cum materia in the case of such adrenogenital syndromes in which an augmented secretion of androgens may orientate the females towards the male direction, including psychological inversion. As for homosexuality sine materia, the Author reports the twin data by Kallman demonstrating, by means of a new statistical analysis, the presence of hereditary factors. According to the Author such cases could be microforms of inherited endocrine diseases originated by an enzyme affection, or equivalents of inherited psychiatric diseases.
From anaclitic Depression to “Toughness” in an infant male Twin
Authors: Call Justin D. 
Published: July 2016

SUMMARYThe present report is of an infant male twin (Don) who developed a depressive illness with onset at 8½ months of age. At 22 months of age, Don's depressive expression and attitude gave way to an expression of toughness which was rewarded by the mother's increased attention to him when he would show his « though look ». Such a transformation of affect in Don is understood as partly adaptational (object capturing), partly defensive (denial of object loss), and partly characterological (counter-phobic attitudes developed). The twin sister, Donna, toward whom the mother was much closer, was spared such an illness. The presence of depression in Don and the lack of it in Donna is understood on the basis of interrelated experiential and constitutional (genetic and maturational) factors in development.The study is reported in order to illustrate the use of twins in the exploration of differences, both constitutional and environmental, which surround development in boys and girls, while the parents's stage of development remains constant.
Versuch einer Lösung des Problems der Vererbung der Chondrocalcinosis articularis
Authors: Valšík J. A. , Šit'aj Š. , Žitňan D. 
Published: July 2016

SUMMARY27 cases of articular chondrocalcinosis have been examined, 6 of which individual ones, and 21 derived from 5 pedigrees.The four main pedigrees belong to families living all in the same village in south-western Slovakia, in a highly inbred region.The disease is not supposed to manifest itself before the age of 20 to 30 years; before, no symptom can be detected, indicating a morbid condition. The inheritance could be sex-linked, which would explain the higher frequency in females (13 cases) than in males (8 cases).
Emoglobine fetali abnormi nella popolazione italiana
Authors: Silvestroni E. , Bianco I. 
Published: July 2016

SUMMARYThe authors explain 9 cases of Bart's Hb. and one case of Hb. Alexandra, identified on 3.556 blood samples from the umbilical-cord in human newborn in time. Electrophorectical and spectrophotometrical examinations showed that Bart's Hb. is identical to Hb. H2(the least fast of the two Hb. fractions present into the bearers of Hb. H).In 7 newborn infants, it has been possible with Bart's Hb. to reexamine them, some months after they were born; it was observed that the said haemoglobins had disappeared; at the same time, in 4 of those subjects, a clear microcytemic picture was noted while in 3 others, still very small, the microcytemic picture appeared still uncertain. In 8 families with newborn babies with Bart's Hb., the two parents were also examined, and in 7 of these families one of the two parents presented a microcytemic picture; in one of them the hematologic traits were normal in both parents, except a very hight alteration of the eritrocyte morphology in the mother.None of the examined parents presented any abnormal haemoglobin; furthermore, all microcytemic parents (except one) and all children with Bart's Hb. presented a normal rate of Hb. A2. This fact, absolutely similar to that observed in the bearers of Hb. H and in their microcytemic relatives, allow to put forward the hypothesis that Bart's Hb. and Hb. H appear in the same families in which we find that special type of microcytemia without any increase of Hb. A2, which would correspond to the microcytemia of theαchain.
Terminology of Genetic Syndromes
Authors: Bauer Julius 
Published: July 2016

SummaryGenetically determined abnormalities of structure or function occur either single or in various combinations. As genetic syndromes should be designated only those combinations that are typical, that is, significantly more frequent than would be expected from pure chance association. Some genetic defects are part of a syndrome or they only accompany other syndromes as irregular trimmings in various distribution and frequency. The accumulation of such “degenerative stigmas” as they were known to clinicians of an older generation had been called “status degenerativi” or “polygenopathy” and attributed to a “mess in the chromosomes” by the author long before this concept has been substantiated by the newest discoveries of British investigators. The biologic significance of such polygenopathies as to adaptation, resistance and general viability of their carriers has been stressed and a more satisfactory terminology suggested.
Influences Comparees de l'Age Maternel et de l'Age Paternel sur l'Apparition de la Trisomie G Libre
Authors: Ros Y. 
Published: July 2016

SummaryIn order to study the influence of maternal and of paternal age on the incidence of standard trisomy G, two samples were compared, one of 335 trisomic and one of 330 normal children in the same age range.The results show an increasing incidence of the anomaly with maternal age, whereas nothing could be concluded concerning paternal age.
De l'Hérédité Mendélienne à l'Hérédité Moléculaire chez l'Homme
Authors: Lamy Maurice , de Grouchy Jean 
Published: July 2016

L'année 1901, trois biologistes, Correns, Tchermak et H. de Vries faisaient, à peu près simultanément, la nouvelle découverte des lois que, trente-cinq ans auparavant, Gregor Mendel avait formulées.Les soixante ans qui se sont écoulés depuis cette date ont vu se succéder un nombre extraordinaire de découvertes qui ont prodigieusement enrichi l'ensemble de nos connaissances et bouleversé jusqu'à notre conception même de la matière vivante.Dès le début du siècle, W. Johansenn introduisait la notion de génotype et de phénotype qui précisait l'action respective de l'hérédité et du milieu.A cette époque, l'aspect particulier que prend le noyau de la cellule au moment de sa division, l'identification des chromosomes, leur forme de bâtonnets, leur colorabilité particulière, tout cela avait été reconnu déjà. Désormais, il était possible de comprendre et d'expliquer les lois mendéliennes de la ségrégation et de la recombinaison. Dès 1903 et 1904, Sutton et Boberi affirmaient que les chromosomes sont les véritables supports de l'hérédité. En 1908, L. Cuénot, expérimentant sur la souris, établissait définitivement que les lois mendéliennes ne s'appliquent pas seulement aux végétaux et aux insectes mais aussi aux mammifères et qu'elles sont des lois générales pour les espèces vivantes.
Concerning the Genetics of Mental Features
Authors: Mohr Jan 
Published: July 2016

It is immediately apparent, that the difficulties encountered in studies of the genetics of the mind are formidable, for several reasons. In the first place, the traits concerned are difficult or impossible to classify or to measure with accuracy. In the second place, they may be unstable towards environmental influence; and they vary with age, or exhibit periodic changes.It is therefore not surprising that our understanding of genetic mechanisms is limited in those conditions where analysis has been carried out merely on the basis of the mental traits.The situation is strikingly different in the conditions where an association has been found between a mental trait and some clearly recognisable physical or biochemical trait. As we all know, in several such cases an exact genetic analysis in Mendelian terms has been found possible, for instance in the amaurotic idiocies and phenylketonuria.
Human Population Genetics, 1961
Authors: Neel James V. 
Published: July 2016

The more significant developments in the field of human population genetics during the past decade can for the most part be subsumed under three headings, as follows:1. The recognition of an increasing number of genetic traits capable of serving as analytic tools in population studies.2. The recognition that many of these traits attain frequencies, although some only in limited areas, such that they have to be labelled genetic polymorphisms. Table 1 is an attempt to list the presently recognized human polymorphisms for which the genetic basis seems clear.3. The emergence of at least a few clues as to the factors responsible for the maintenance of some of the plymorphisms, although it must be confessed that for the majority of the traits listed in Table 1, there is as yet no real insight into their role in populations.As is well known from the contributions of Fisher, Wright, Dobzhansky, Lerner, Crow, Kimura, and others, genetic polymorphisms have the property of acting as stabilizing mechanisms in maintaining certain aspects of the fitness of populations. Consequently, whereas what we may term the “classical model” of the dynamics of a genetic locus in a population looked to mutation pressure as the source of the impairment of population fitness which could be traced to that locus, the “polymorphic model” views that impairment as in part a price a population pays for the maintenance of an optimum level of heterozygosity at that locus. The two models have such profoundly different practical and philosophical consequences that it is small wonder that in recent years the running discussion of their relative merits and roles has generated a degree of heat matched by few other current biological questions.
The Pool of Harmful Genes in Human Populations
Authors: Fraser G. R. 
Published: July 2016

The concepts of dominance and recessivity as applied to human genetical traits are losing their original connotations. It is better to speak of genes unconditionally deleterious in heterozygote form and those for which such disadvantage is doubtful. The classical dominant traits come into the first category and in the large majority they give rise to grossly pathological conditions and are ipso facto harmful-many in fact are lethal. In the case of these genes it is difficult to conceive that any agency other than recurrent mutation is instrumental in keeping them at their present frequency.Assuming that such mutation rates are of the same order of magnitude over the entire spectrum, the frequency of these traits will vary inversely with their severity and this is found to be approximately true-from an incidence of 3/million for an almost invariably lethal trait such as acrocephalosyndactyly to 1/1000 for a relatively innocuous trait such as ptosis.We would not expect genes even at the higher of these frequencies to be often seen and recognised in homozygote form with the low degree of inbreeding prevalent in human populations. This is in fact confirmed in practice and examples of possibly homozygous forms or dominant conditions are very rare. To be recognized as causing a recessive trait, with a few exceptions in inbred communities, a gene must be more common and often cannot therefore be maintained by recurrent mutation alone. Very wide geographical variations in the incidence of such traits also militate against such an interpretation. Phenylketonuria is an excellent example. The abnormal gene reaches a frequency of as much as 1% in some populations and it is unknown in others.