bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pseudo-Pseudo Male Hermaphroditism with Auto-Gonosomic Mosaic
Authors: Gedda L. , Torrioli-Riggio G. , Porto G. Del , Silvani L. 
Published: July 2016

SummaryA case of apparent pseudo-hermaphroditism is described, which seems to represent a new kind of genital pathology. The phenotypic (genital ambiguity) and genotypic (mosaicism of both autosomes and gonosomes) alterations are interpreted as the result of a series of clonal errors of mitosis in the ontogenetic development of a Xy zygote, due to mutant genes for the control of mitosis.
Human Genetics Studies in Areas of High Natural Radiation: I. Methodology
Authors: Freire-Maia Ademar 
Published: July 2016

SummaryThis paper reviews the investigations in the field of the effect of natural radiations on human populations, and discusses a number of problems inherent to retrospective genetic studies of human populations living under high levels of natural radiation. The solutions to face, at least partly, such problems are presented and discussed with special reference to the Brazilian “Projeta Espírito Santo” (PES).In summary, the main PES subjects presented and discussed are as follows:1) The data, including about 7000 couples and 40000 pregnancy terminations, have been fully collected and are presently under analysis. They were gathered from January to October 1961 by a team of specially-trained female interviewers employing a standard questionnaire, making home visitations, and being directly supervised by the present author;2) The reporting has been practically consistent both within and between populations throughout the whole field work. Biased contribution both from the interviewers and the informants was probably negligible. The collection of the data was not subject to any subjective factor related to problems of radiation effect.3) The interviewers came from the same socio-economic level from which the majority of the people interviewed belong. They were rather familiar with the region and had a perfect understanding of the culture of the people.4) A checking survey was performed to estimate the reliability of the data, with good results.5) No propaganda or publicity has been made preceding or during the field work. This reduced the probability that people and the field work team knew o our interest in radiation problems.6) Although efforts were made to have good descriptions of the abnormalities, and good information on the causes of deaths, unfortunately accurate diagnosis was not possible.7) Cultural and religious practices probably do not affect differently reproduction in the radioactive and control areas, and socio-economic conditions seem to be roughly similar.8) It is difficult to know the cumulative radiation dose to the parents of the individuals analyzed (an attempt regarding this point will be made when the data are analyzed). The mean individuals living in the control, intermediate and radioactive areas are probably subject to minimal gonad-doses of about 2, 3, and 7 r in a 30-year period, respectively.9) No attempt was made to study the influence of radiation on the rate of mutation at specific loci, but an analysis will be made of the genetic characteristics of the populations assumed to be conditioned or influenced by mutations at many loci.10) As has been duly pointed out in this paper, the “Projeto Espírito Santo” (PES) was not specifically planned to demonstrate, with conclusive results, the genetic effect of natural radiation. Although some positive result is possible, it is highly improbable.
The World Distribution of Transferrin Variants and some Unsolved Problems
Authors: Kirk R. L. 
Published: July 2016

SummaryNineteen variants of the iron-binding protein, transferrin, have been described in human serum. The world literature on the distribution of these variants in human populations is surveyed in comprehensive tables and attention is drawn to some of the outstanding deficiencies in our present knowledge of this distribution. It is pointed out that transferrin variants are important markers in anthropological studies.
Fertility and Multiple Births
Authors: Gedda L. , Brenci G. 
Published: July 2016

SummaryThe study of Italian Vital Statistics, from 1957 to 1966, reveals various classes of fertility (sterility, infertility, mean fertility, hyperfertility) and the curve of fertility in the woman's biological time. The study of lying-in women in Obstetrics Departments also yields data revealing an interaction between class and moment of fertility. The study of the Mendel Institute's twin file finally yields data stressing the existence of a relation between hyperfertility and multiple births. Endocrine fertility may thus be considered as genetically conditioned, and multiple births as an epiphenomenon of the hyperfertile class.
Studies on Twins: II. Typhoid favours Cotwins
Authors: Goswami H. K. 
Published: July 2016

SummaryThe fact that controls as are maintained in most biological experiments, could even be studied ebulliently in human population, by observing a MZ pair, a member of which is exposed to a certain anomaly and the other acts as control, becomes more vivid and recommended from the present studies. For, they can be directly related to human health and welfare.Permanent changes due to typhoid incidence in physical, mental and anthropometric traits of a member of MZ twin pair may be suggestive of some “beneficial interaction of typhoid bacillus with certain intricate mechanisms like RNA and protein synthesis, as has been envisaged earlier.
The Inheritance of Red Hair
Authors: Rife David C. 
Published: July 2016

SUMMARY1. The proportions of red haired offspring within families in which one or both parents are red haired are too high to support the hypothesis that red hair is inherited as a simple recessive trait.2. Family data and gene frequency analysis give strong support to the hypothesis that red pigment in human hair is dominant to its absence, and is hypostatic to brown and black.
Familiäre D/E-Translokation
Authors: Meyer-Robisch M. , Schwanitz G. 
Published: July 2016

SUMMARYAnalysis of the chromosomes of the proposita, who died at 10 weeks of age, revealed a D/E translocation. The child showed the following abnormalities: hypertelorism; high palate; low set, malformed ears; left paresis of facial nerve; micrognathia; hemimelia with radius aplasia on the left side; open foramen ovale; open ductus botalli; ventricel septum defect; pelvic kidney left; hypotonia of the musculature; shortened thigh-adductors; and a dorsal flexion of the first toe on both sides.The chromosome complement of the father included both reciprocals of a translocation between a D- and E-chromosome. The chromosome number of both father and child was 2n=46.
Studio Citogenetico di 140 Pazienti affetti da Sindrome di Down
Authors: Ricci N. , Ventimiglia B. , Dallapiccola B. 
Published: July 2016

SUMMARYThe Authors report the results of a cytogenetical investigation on a group of 140 Down's syndrome patients: nine of them had a translocation (D/G or G/G) and four a mosaic (trisomy 21-22/apparently normal); a mongol girl had 48 chromosomes due to the presence of a small centric chromosome and 21-22 trisomy. All other patients had a regular 21-22 trisomy. Some additional morphological anomalies are described, but interpreted as being expression of the normal human karyotype's variability.
Studies on Twins I. Typhoid Favours Cotwins
Authors: Goswami H. K. 
Published: July 2016

SUMMARYThe experimental cotwin control method by means of 34 MZ pairs, of which only one cotwin of each pair suffered from typhoid disease, offered excellent opportunities to study the after effects of typhoid incidence on the anthropometric, mental and physical traits of individuals. Comparison among 56 MZ pairs reveals that typhoid brings out certain significant changes in these traits.Increase of intelligence has already been shown, due to increased quantity of RNA. Whether or not typhoid incidence after a period of approximately 7 months influences the rapid synthesis of RNA would be a good field of biochemical investigation of immunogenetical interest.
Taste Sensitivity to Phenylthiocarbamide among three Mongoloid Populations of the Indian Border
Authors: Sharma J. C. 
Published: July 2016

SummaryTaste threshold for phenylthiocarbamide were studied among 242 Tibetans, 125 Spitians and 314 Lahaulis, the three Mongoloid populations of the Indo-Tibetan border. No statistically significant sex differences have been observed in the frequency of tasters and non-tasters in the present study. The frequency of non-tasters among Spitians (12.00%) and Lahaulis 12.73%) is strikingly similar and slightly higher than among Tibetans (10.74%). Statistically the difference in the three populations is non-significant (χ2 = 0.95, df = 2, p>0.05). In spite of the considerable Hindu admixture with a high frequency of non-taster gene, Spitians and Lahaulis have maintained a rather low frequency of non-tasters. This is true of populations all along the cis-Himalayan region, where similar Mongoloid and Hindu admixture has taken place. Besides the main Mongoloid element the proto-Australoid racial strain in the region may also be considered responsible for lowering the frequency of non-tasters.
A Study of the Distribution of Mid-Digital Hair among Newars of Nepal
Authors: Bhasin M. K. 
Published: July 2016

SummaryData on the middle-phalangeal hair among the different groups of Newars of Nepal Valley are presented.Sexual differences for this trait are non-significant in Groups 1, 2 and 4.The inter-group differences of Groups 1, 2 and 4 give non-significant results, suggesting a similarity for this trait among these groups in Newars.The variability ranges between 22.1 to 100% in males, and 26.4 to 100% in females, in the frequencies of mid-phalangeal hair absence, among various populations.The Mongoloid population is found to be in the range of 44.9 to 98.10%, with regard to the absence of this trait.The Newars, as a total group, show frequencies of 75.43% in males, 76.63% in females and 76.04% in both sexes, combined, with respect to the absence of this trait.The Newars fall nearer to the tribal groups of Assam (Khasi, Lushai and Mikir) and Japanese as far as this character is concerned.
On the Concepts of Chronon and Chronaxy and their Implications in Neoplasia
Authors: Bartalos M. 
Published: July 2016

SummaryThe concepts of Chronon and Chronaxy of Gedda are discussed in the light of recent biochemical-genetic knowledge. It is proposed that the term «positive chronaxy» and «negative chronaxy» be employed to designate the period during which a gene is in active and inactive state, respectively. Other terms proposed are «recurrent positive chronaxy», «recurrent negative chronaxy» and « uncoordinated chronaxy». It is pointed out that the different chronaxy states of genes may be subject to modification by certain agents. If a given agent is able to change a gene from a negative chronaxy state into positive chronaxy state, the gene toward this agent behaves as being in a «conditionally negative chronaxy state». In the same sense, we can speak also of a «conditionally positive chronaxy state» of a gene. It is proposed that mutations facilitating malignant transformation of cells can, theoretically, occur in both the active and inactive segments of the DNA. If active segments of the DNA are affected, i.e. those in positive chronaxy state, the effects of such mutations would be expressed immediately. If, however, genes in negative chronaxy state have similar mutations, their effect would be expressed only if these genes become activated by some agents, either physiological or unphysiological. Malignancies facilitated by hormonal inbalance may represent instances or mutated gene activation by physiological agents while tumors caused by carginogenic substances with a structure resembling steroid hormones could be examples of gene activation by unphysiological agents.
Fingerprints in twin
Authors: Parisi P. , Bacco M. Di , Gedda L. , Naddeo A. 
Published: July 2016

SUMMARYThe fingerprints of 15 MZ and 15 DZ female twin pairs have been studied for methodological purposes. Zygosity has been ascertained both on account of similarity criteria (polysymptomatic method, etc.) and of concordance ones (blood groups). The data have been analyzed both qualitatively and quantitatively. The complexity of the qualitative analysis has required an apposite methodology and the use of a 1620 IBM computer.Similarities — at the qualitative level — and concordances — at the quantitative one — appear to be significantly different respectively in MZ and DZ twin pairs.No conclusions are drawn from the present results. The final work, based on 100 twin pairs (cf. Tab. 1.1) will possibly allow better understanding of some topics rapidly dealt with in this mainly methodological note.
A Short Note on the Birth Order, Parental Age and the Incidence of Oral Clefts
Authors: Bardhan A. 
Published: July 2016

SummaryA study of 6375 births from the records of two hospitals of Delhi reveals that the incidence of oral clefts is more or less constant in both males and females. Evidence indicates that plural births are more associated with the harelip, cleft palate and cleft lip, than single births. In the same way, there is a positive association between oral clefts and higher age groups of parents. For this fact it can be mentioned that the incidence of oral clefts is lower in lower birth ranks and higher in higher birth ranks, which is again indirectly influenced by the higher age group of parents.
Down's Syndrome and Maternal Inbreeding
Authors: Matsunaga Ei 
Published: July 2016

SummaryIn order to test the possible effect of maternal inbreeding upon non-disjunction, ancestors of 104 children with Down's syndrome born to younger mothers were identified on the basis of official records. Among them, 6 had related parents, while 10 of the fathers and 12 of the mothers had also such parents. The relationship comprises first-cousins, first-cousins once removed, and second cousins. It was concluded that recessive genes are unlikely to be involved in the aetiology of non-disjunction of the 21st autosome, at least in younger mothers.
Cherubism in a Brazilian Kindred
Authors: Salzano F. M. , Ebling H. 
Published: July 2016

SummaryA description is made of a Brazilian family of white ancestry in which five individuals presented the fibrous dysplasia of the jaws known as cherubism. The information obtained involves seven generations in a total of 75 individuals. 23 of these were examined by the authors and a report about a deceased person was confirmed by photograph. The affection in this family is probably conditioned by an autosomal dominant gene with variable expressivity.
Hereditary deficiency in pseudo-cholineslerase and apnoea from succinylcholine
Authors: Sansone G. , Rasore-Quartino A. 
Published: July 2016

SUMMARYAfter a brief introduction on the genetic aspects of serum Cholinesterase, the Authors describe two familial cases of subjects homozygous for the atypical gene of Cholinesterase, who had severe apnoea following anesthesia.
Inheritance of Dermatoglyphic Formulae: I. Ulnar loops in complete or partial symmetrical formulae
Authors: Lázaro C. , Kolski R. , Olaizola L. , Scvortzoff E. 
Published: July 2016

SummaryThe results are presented of a study of ulnar loops in complete or partial symmetrical formulae, in all possible combinations, in a sample of 200 families taken at random in the population of Montevideo.Some partial formulae not only appear in a significantly higher proportion when both parents have them, and in a smaller amount when they lack them, but also seem to be inherited in a higher degree than the theoretical expectancy of the combined chances of the patterns they are made up of.The authors' conclusions is that there seems to be a basic influence of factors determining the inheritance of independent patterns, plus a second one, resulting from the meeting of some patterns to give a more remarkable genetic effect for the inheritance of partial formulae.
Study of a pair of DZ twins — the one affected by mongoloidism and trisomy-21, and the other normal with transitory chimerism of 21-trisomic cells
Authors: Massimo L. , Gemme G. , Vianello M. G. , Verri B. 
Published: July 2016

SUMMARYTwo DZ monoplacental twins are reported, one affected by mongolism and the other normal. Chromosome examination in the former indicated trisomy 21, while the latter presented a mosaicism consisting, at the age of 13 days, in 70% normal and 30% 21-trisomic cells; at the age of 5 months, in 95% normal and 5% trisomic cells; while, at the age of one year, all the cells appeared to be normal.The possibility of mosaicism, and, according to clinical and hematological findings, that of feto-fetal blood transfusion are excluded.The hypothesis is suggested of a progressive loss of the reproductive capacity of « chimaera » of abnormal lymphocytes.
Somiglianze tra le Figure Papillari dei Padri e dei Figli
Authors: Di Bacco M. 
Published: July 2016

SUMMARYThe author's purpose is to establish if there exists a propensity between fathers and sons about the papillar figures which are on the apical palanx of the fingers of the hand.He has examined a sample of 31 families, each of them composed of a father and a number of sons, which generally varied from group to group, one to four, for a total of 76 sons.After having carefully considered the possible statistical techniques to be employed in the research, the author has concluded that the most satisfactory method is a test directly ensuing from the mathching theory.The application of the test revealed that for the two middle fingers, the index and the left annular, such a propensity between fathers and sons can be certainly estimated as existing; as to the right annular, the conclusion is doubtful; for the remaining fingers, the propensity is not admissible.
Hairy Ears among the Pahira
Authors: Basu Amit 
Published: July 2016

SUMMARY1. Data relating to hypertrichosis of the ear rim, lobe, tragus and antitragus in the Pahira are presented.2. It has been indicated that (a) hypertrichosis of the rim is associated with that of the lobe, tragus and antitragus, and both may be controlled by the same genotype; (b) it may not be a characteristic of the Mediterranean race alone; and (c) its use as an “anthropological marker” is of limited value.
Filariasis in its Relation to A1A2BO, MN, Kell, Duffy and Rhesus Blood Groups and Secretor Factor
Authors: Anand S. 
Published: July 2016

SUMMARY603 patients suffering from filariasis have been studied for A1A2BO blood groups; 281 for Duffy, Kell and rhesus blood groups; 178 for secretor factor; and 503 for MN blood groups, to find out if there is any association between filariasis and these blood groups. No association, whatsoever, has been found between the blood groups studied and filariasis.
Sindrome OFD in un MaschioRilievi sulla Genetica della Sindrome OFD dall'Analisi di 33 Famiglie
Authors: Segni G. , Serra A. , Mastrangelo R. , Polidori G. , Massasso J. 
Published: July 2016

SummaryA case of OFD syndrome in a male is reported. The clinical features are described in detail. The genetical aspects of the syndrome are discussed on the basis of the analysis of 33 families from the recent literature. It appears that in the great majority of the cases so far known, the syndrome is due to a dominant probably X-linked gene, lethal in males and with complete penetrance in females. Of all cases 24% are sporadic. It seems likely that a few cases are due to a recessive autosomal gene. It is concluded that the reported patient is, with high probability, either a mutant or a case with hereditary recessive pattern.
Computerization of a Permanent Twin Register: a Basic Tool in Scientific Research
Authors: Gedda L. , Milani-Comparetti M. 
Published: July 2016

SummaryThe Authors report on the steps involved in the computerization (coding of data, card punching and tape recording) of a Twin Register initiated in 1942 and currently approaching 11,000 cases of multiple births.The Register is permanent in that it involves continued updating of information and addition of new cases. It includes twins of any age, sex, zygosity and health condition.The experience gained in the reported project can be usefully shared in wiew of international cooperation and standardization.
Genetics in the Soviet Union
Authors: Parisi P. 
Published: July 2016

SummaryGenetics in the Soviet Union has undergone a profound and long crisis, involving the realm of Biological Sciences and Science and Culture as a whole.This was not merely due to the emergence of neo-Lamarckian Michurinism, claiming the inheritance of acquired characters to be possible and necessary, and the genotype to be plastic and shakable, especially under particular environmental and physiological conditions: this could have been the object of scientific discussions, probably of a controversy, too, just as one century ago, but would have hardly involved matters of principle and of method in Scientific Research, nor would the controversy have degenerated, absurdly giving rise to a “ Western ” and a “ Soviet Science ”.Two closely connected factors, equally important and equally witnessing a reject of the principles underlying the scientific method, may be considered as the actual source of this partition of Science, namely:i) The assumption of a primacy of Ideology, thus making Science be submitted to it, and scientific theories be held right or wrong, according to their fitting or not ideological ones;ii) Violent political pressures and administrative coercion on scientific thought, and on scientists themselves.Along with such matters of principle, matters of method in research planning and the formulation of results made it impossible to reach a plain evaluation of Lysenko's theories and results.Now that a normal athmosphere appears to have been re-established for the development of genetic research in the Soviet Union, rejecting, or ignoring the whole of Lysenko's work, could prove just as wrong as Lysenko's reject of Classic Genetics.
Variation Studies on Plantar Intertriradial Measurements The c-d and direct a-d measurements in Panjabi Brahmans
Authors: Datta P. K. 
Published: July 2016

SUMMARYThe distribution of c-d and direct a-d intertriradial measurements has been investigated in the plantar dermatoglyphic surface of 100 males and 100 females from the Panjabi Brahman population.The meam values of both c-d and measurements appear to be smaller in females and ow the rigt sides.The ‘t’ test reveals that bilateral variation is statistically significant in the c-d measurements, both when the sides are combined or separate.Sex differences too are statistically highly significant in the c-d and a-d measurements, both when the rights and lefts are studied individually or jointly.
Blood Grouping Tests in Disputed Parentage Qualifications of Experts. II. An Error Involving the Rare Rh-Hr Blood Types RhzRhI and Rhzrh
Authors: Wiener Alexander S. 
Published: July 2016

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