bluuebunny/crossref_metadata_2025_split huggingface dataset:
Simple Segregations in Two Families of Mixed Origin
Authors: Rife David C. 
Published: July 2016

SummaryVariations in skin color and palm patterns were investigated in two families in which the fathers are of mixed Negro-White origin and the mothers are Dutch. Segregation among the children indicates that two genes with cumulative effects are responsible for dark shades of skin in family A, whereas only one gene is responsible for dark skin in family B.In family A the mother is heterozygous for accessory triradii and vestigial patterns in distal palmar areas, whereas in family B the father is heterozygous. Skin color and patterns in distal palmar areas do not occur independently among the children in family B, suggesting the possibility of linkage.
Twin Pair Analysis of Some Palm Indexes
Authors: Pinto Walter , Beiguelman Bernardo 
Published: July 2016

SummaryThe heritability of two main line indexes (DLI and TLI), a palm crease index (API), and an ulnarity index (UI) were investigated by using twin pair methodology for quantitative traits.The analyses of the data allow to conclude that both DLI and API, which have been used to evaluate the obliquity of the main lines and the distal crease of the palm, should not be considered as depending upon an important genetic component. Otherwise, data on TLI and UI, while showing inconsistencies with the theoretical expectations, may be considered as genetic traits.
Birth Weight and Congenital Absence of Teeth in Twins
Authors: Keene Harris J. 
Published: July 2016

SummaryThe relationship between hypodontia and birth weight was investigated in 262 twins from the naval recruit population at Great Lakes. The overall frequency of hypodontia including third molars was 34.8%. Excluding third molars, hypodontia frequency was 11.6%. Anatomic distribution of congenitally missing teeth and frequency of third molar hypodontia were similar to other studies, but hypodontia of teeth other than third molars occurred two-three times as frequently in twins as in the general population.The frequency of low birth weight (2500 g or less) in the twin sample was 47.7%. Hypodontia occurred more frequently in twins with low birth weight (42.6%) than in twins with birth weights over 2500 g (28.6%). Mean birth weight of twins with hypodontia was 2479 g, and without hypodontia, 2675 g. Twins with missing teeth other than third molars had a mean birth weight of 2357 g.Mean birth weight was lower and hypodontia frequency was higher in MZ than in DZ twins. Discordances in anatomic location and number of missing teeth occurred in several MZ and DZ twin pairs. Discordances within MZ sets tended to be related to anatomic location rather than number of missing teeth. Six twin pairs (5 MZ and 1 DZ) out of 20 (13 MZ and 7 DZ) having one or more missing teeth had perfect concordance in both number and location of missing teeth. In 28 pairs neither member had hypodontia.Mean intrapair variance in number of congenitally missing teeth was almost ten times greater in DZ than in MZ pairs, indicating the presence of a strong genetic component in connection with tooth number variability in twins.
Palm Patterns and Pigmentation in a Cherokee Indian Population
Authors: Rife David C. 
Published: July 2016

SummaryHand prints, estimates of degrees of skin pigmentation and percentages of Cherokee ancestry of 700 Indian pupils attending the Cherokee, North Carolina school were analyzed. The pupils are of mixed Cherokee-White origin. The average proportion of Cherokee ancestry is approximately 60%, the percentages being significantly higher in upper than in lower grades.The frequencies of palmar patterns are similar to those recorded for other North American tribes. Frequencies of patterns in each of three palmar areas show significant associations with degrees of pigmentation, the highest association occurring between light pigmentation and accessory triradii in distal interdigital areas.
Particular Aberration of G-Group Chromosomes
Authors: Grünwald P. , Schweikhardt F. 
Published: July 2016

SUMMARYThree clinically atypical cases of Down S. and cerebral idiocy are described, showing peculiar chromosomal deviations and of difficult diagnosis. One more case is described, partly showing Marfan S. symptomatology with a duplication of the satellite-region of a G-Chromosome. This chromosomal deviation appears to occur in the family, although with no clinical significance.
Genetics and Sterility
Authors: Gedda L. 
Published: July 2016

SUMMARYThe genetic study of sterility, although rather complex, may be carried out, as far as the parents are concerned, on the basis of existing detection methods. A number of forms of individual sterility may be detected on the basis of the caryotype (ovarian and testicular dysgenesis, hermaphroditism), while a chromosomal pathologic phenotype is missing for others, and the corresponding genotypes must be detected through clinico-genealogical methods (pseudohermaphroditism, adrenogenital syndrome, Laurence-Moon-Bardet-Biedl syndrome, hereditary malformations). It is noted that the problem of immunitary incompatibility is not sufficiently clear. Examples are presented of others forms of sterility depending on a lethal load of theconceptus, for which consanguineous marriages may be held largely responsible. Cases of sterility may also be found in relation to mental diseases. The importance of eugenic counseling is stressed.
G-6-PD Deficiency and Abnormal Hemoglobins in a Brazilian Population
Authors: Salzano F. M. , Lewgoy F. , Tondo C. V. , da Rocha F. J. 
Published: July 2016

SummaryData are reported about the occurrence of glucose-6-phosphate dehydrogenase deficiency (G-6-PDD) and abnormal hemoglobins in a sample (316 males and 679 females) of the Negroid population of Porto Alegre, Brazil. The prevalence of double carriers (AS/G-6-PDD) was that expected from the isolated incidence of both anomalies. A review of the literature shows similar results for 3491 males and 289 females from African and American Negroid groups both from areas with and without malaria. Therefore there seem to exist no grounds for postulating an adaptive interaction between these two polymorphisms.
A New probably X-Linked Inherited Syndrome:Congenital Muscular Torticollis, Multiple Keloids Cryptorchidism and Renal Dysplasia
Authors: Goeminne Luc 
Published: July 2016

SummaryA kindred is described with a probably new “cervico-dermo-reno-genital syndrome”, comprising a congenital muscular torticollis, multiple spontaneous keloids, cryptorchidism, pyelonephritis and other anomalies.We believe that in this observation a single gene is responsible for the multiple mesodermal and ectodermal defects. Pleiotrophic effects of a single X-linked gene is the most likely possibility for this inborn error of connective tissue.From an extensive review of the literature we may conclude that the nosological association of congenital muscular torticollis, multiple spontaneous keloids and cryptorchidism has thus far never been published.Sex linked or sex limited inheritance for congenital muscular torticollis or multiple keloidosis has not yet been published with certainty.Our observation and the frequent keloidosis in gonadal dysgenesis, may suggest the presence of gene material on the X-chromosome responsible for connective tissue hyperplasia.
Human Ring Chromosome Syndromes:An “E” Ring Associated with an Abnormal Phenotype
Authors: Sinha Anil K. 
Published: July 2016

SummaryIn peripheral blood cultures of a phenotypically abnormal Caucasian girl, a ring-shaped chromosome was observed in place of an E group member. The rest of the chromosomes of the complement did not show any obvious structural anomaly. The ring chromosome was noted in 100% of the recorded cells, and its size in individual metaphases remained fairly constant. It is suggested that this ring chromosome has become a permanent part of the complement of the patient.
The Syndrome of Testicular Feminization. Clinical and Cytogenetical Study in two Brothers
Authors: Castoldi G. L. , Puddu E. , Lecca U. , Gandini E. , D'Aloya G. 
Published: July 2016

SummaryThe Morris syndrome of testicular feminization is described in two brothers. Cytogenetic findings show in both subjects a 46,XY karyotype in most examined metaphases and a 45,XY karyotype (due to a consistent loss of a small acrocentric) in a smaller percentage (respectively 18.7% and 28.5%). The meaning of these findings is discussed.
The Danish Twin Register
Authors: Hauge M. , Harvald B. , Fischer M. , Gotlieb-Jensen K. , Juel-Nielsen N. , Raebild I. , Shapiro R. , Videbech T. 
Published: July 2016

SummaryA description is given of the Danish Twin Register which is based on the total twin population born in Denmark in the years 1870-1910 with a more recent addition of all same-sexed pairs from the period 1911-1920. Twins belonging to pairs where one or both partners are found to have died before attaining the age of six years are disregarded in the more intensive studies whereas the remaining part of the twin population is being followed by periodical inquiries.The methods used in the collection of the material, in the establishment of the zygosity diagnosis and in specific investigations of selected diseases and abnormalities are described and discussed.A survey is given of the more important results of the research based on the Register. In the group of somatic diseases, greatest attention has so far been paid to malignant growths, diabetes mellitus and peptic ulcer. A number of psychiatric disorders and deviations are at present being studied with schizophrenia and criminality as the first subjects for intensive research. Some of the main results obtained are given as illustrations of the potentialities and scope of this approach to the application of twin studies in a broad variety of research areas.
Médecine et Eugénisme
Authors: Gedda L. 
Published: July 2016

SUMMARYThe great process of revision of medicine in the light of genetics has sofar traced three main patterns in present medical thinking: normal human genetics, medical genetics, and eugenics.The birth of genetics represents in nuce the birth of eugenics, or preventive genetics, which, on account of the study of the traits of a man and a woman, may judge of the probabilities of their children with respect to the same traits.Eugenics makes objective and valid deductions, but one has always to rely on the responsibility of the propositi, and on auto-decision, engaging the conscience of intelligent and free beings.
Quadro Elettroencefalografico in una Famiglia con due Fratelli affetti da Retinopatia Pigmentosa, Ipoacusia, Polidattilia
Authors: Gedda L. , Restivo-Manfridi M. L. , Romei L. 
Published: July 2016

SUMMARYThe Authors report EEG alterations found in two brothers affected by pigmentary retinopathy, syndactilia and hypoacusia, and in their relatives. The EEG resulted to be altered aspecifically in the propositi, in their mother and their two clinically healthy sisters. The father was normal. Reports on EEG alterations in patients with pigmentary retinopathy are rather frequent, while such report is rare in healthy relatives.
I Dermatoglifi nella Sindrome di Down Tipica ed Atipica
Authors: Dallapiccola B. , Ricci N. 
Published: July 2016

SUMMARYA study of the finger and palm prints and of the chromosomal patterns of 122 Down's syndrome patients, among which 9 had a D/G or a G/G translocation and 4 a mosaic, could not detect significant differences between dermatoglyphics of regular trisomic mongoloids and of the translocated ones. Mosaic cases had few Down's syndrome dermatoglyphic peculiarities, in relation with the number of the trisomic cells in the chromosomal set.
Gm system in Latium
Authors: Durante F. , Ronchi G. Umani 
Published: July 2016

SUMMARYIn order to contribute to the studies on the group substance properties of the Gm system, the Authors have carried out a research on 180 subjects living in Latium. The results [Gm(a) 48.8%; Gm(b) 95%; Gm(x) 9.4%], are very similar to those obtained for white subjects in other countries of Europe and North America.The Authors underline the importance of this new system in the investigations for ascertaining the parental relationship.
Leukocyte alkaline phosphatase in Down's syndrome
Authors: Cardinali Giuseppe , Cardinali Giuliana , Renzulli Francesco , Capotorti Luigi , Ferrante Enzo 
Published: July 2016

SUMMARYThe Authors studied the leukocyte alkaline phosphatase (LAP) activity in 40 subjects with Down's syndrome. The age of the patients ranged from one week to 15 years. Chromosome analysis was carried out in 13 cases. 42 normal children of the same age as the patients were used as controls. The mean value of LAP in the patients with Down's syndrome was 175.5 and in the control group 108.8. In the latter group the LAP activity was clearly influenced by the age; the highest values were obtained in children under 11 years of age. The regression coefficient of the LAP on the age in the control group was –3.73. In the patients with Down's syndrome the differences observed between the various age groups were not statistically significant.Chromosome studies showed a 21 trisomy in 12 cases; in one case a 15/21 translocation was found. The latter case presented an elevated LAP activity.The Authors support the hypothesis that the gene or genes controlling LAP activity are located in the 21 chromosome and that the LAP activity may vary under the influence of several factors within the limits of the genetic control.
On the gene-carriers of Fuchs' atrophia gyrata chorioideae et retinae
Authors: François J. , Barbier F. , De Rouck A. 
Published: July 2016

SUMMARYAlder's anomaly of the leucocytes, which had been considered as a manifestation of the gene-carrier of Fuchs' atrophia gyrata chorioideae et retinae, has not been found in other cases of the latter disease.
« Pure Gonadal Dysgenesis » with a 44 A + xx karyotype in two daughters from consanguineous parents
Authors: Giusti G. , Borghi A. , Salti M. , Bigozzi U. 
Published: July 2016

SUMMARYA case of two daughters of consanguineous parents, one with « pure gonadal dysgenesis », and the other with severe ovarian hypogenesis are reported. Both patients have positive nuclear pattern, and normal feminine karyotype, i e. 44 A + xx.After reviewing the literature on familiar cases of « rudimentary gonads syndrome », the AA. suggest that the genetic mechanisms involved are different, according to the clinical picture and the chromosomal constitution.In the few cases of classical Turner's syndrome with xo karyotype, a repetition of a chromosomal nondisjunction, during maternal or paternal gametogenesis, can be accepted. The cases of chromosomal mosaicism are probably related to an anomalous mitotic division of normal zygotes which takes place in the same woman, in the course of more than one pregnancy.Various interpretations can be given to the cases of familiar pure gonadal dysgenesis. Since the patients show more often a normal feminine or masculine karyotype, the possibility that the anomaly is bound to an autosomal recessive gene has been suggested (see Hauser's case, 1960, in which, as well as in the one here reported, the parents were consanguineous).Other possibilities are not to be underestimated: an early lesion of the gonads by environmental maternal factors, also in subjects with different genetic sex, should be taken into account.
A new family showing dysplasia spondyloepiphisaria tarda
Authors: Sieweke H. 
Published: July 2016

SUMMARYA family with dysplasia spondylo-epiphysaria tarda is reported. This dysostosis clearly differs both clinically and genetically from Morquio's disease. The onset is at the age of ten or later. The skeleton deformation concerns mainly the vertebral column and lesser the thorax and pelvis. In the course of life the degeneration increases slowly. Eleven male members of this family were affected and out of these eight have been examined. An X-linked-recessive inheritance is suggested. The remarkable clinical and genetical analogy with the families described in the literature justifies the assumption that the dysplasia spondylo-epiphysaria tarda be an independent disease clearly differing from Morquio's one (Lamy and Maroteaux).
Alterazioni Cromosomiche dei Leucociti Indotte nel Bambino da Irradiazioni Diagnostiche — (Nota preliminare)
Authors: Massimo L. , Vianello M. G. , Dagna-Bricarelli F. 
Published: July 2016

SUMMARYThe Authors have observed a high rate of chromosomal morphologic alterations in leukocyte cultures in 10 children who had previously undergone Roentgen irradiation for diagnostic purposes. Temporary alterations have been observed, such as interruptions of chromatine on the proteic thread, defined as achromatic lesions of one or more chromatids; fragmentations of chromatids; fragments without centromere; deletions; ring-chromosomes; dicentric and tricentric chromosomes and, in certain cases, increase of polyploid mitoses, both on account of endo-reduplications or of a lacking cytoplasm division.
Heredity and Dermal Patterns in the Interdigital Areas of the Palm
Authors: Glanville Edward V. 
Published: July 2016

SUMMARYHereditary factors involved in the determination of the size, relative position and type of pattern formed by the dermal ridges in the interdigital areas of the palm have been investigated by means of twin and family studies. The sample consisted of 566 individuals of European descent. The ridge-counts of patterns in the interdigital areas were determined. Correction factors were introduced to compensate for different average counts in each interdigital area. The correlation coefficients between family relatives were calculated using the ridge-counts. The coefficient for monozygotic twins was .88±.04 and for parent and child from .346 to .425 and for sib pairs from .328 to .412. There was no evidence of sex-linkage or of the effects of dominance. Variation appeared to be determined by additive genes but an appreciable amount of variation of non-genetic origin was observed. Bilateral asymmetry in the ridge-count, type of pattern and relative position of the patterns was evident. Concordance rates in twins and other family members and pedigree data provided further evidence of hereditary influence in the determination of the position and type of pattern in the interdigital areas.
The Absence of One Umbilical Artery in Malformed MZ Twins
Authors: Slípka Jaroslav , Kočová Jitka 
Published: July 2016

SummaryThe authors studied the structure of the umbilical cord in a cephalothoracopagus and a holoacardius amorphus. In both cases they met with the absence of one umbilical artery. They discuss on the possible teratogenic influence of this umbilical anomaly, which appears in the acardius as a regular phenomenon, and, along with the velamentous insertion and with the vascular anastomoses bringing about the reverse blood circulation, constitutes the main cause of malformation.
Sulla Genetica del DiabeteAnalisi di nove casi famigliari
Authors: Gedda L. , Casa D. , Brenci G. 
Published: July 2016

SummaryNine family cases of diabetes are genetically interpreted on account of a polygenic model of inheritance, with each allele being characterized by a different probability of chronological stability of the normal information. This model provides a satisfactory interpretation of the clinical and subclinical variability of diabetes — which the diallelic model is unable to do — and has on the polygenic model the advantage of a higher fitness to a case of discontinuous variability, such as diabetes. Both pedigrees characterized by apparent recessive inheritance and those characterized by apparent dominant one may equally be interpreted on account of the polyallelic model.The origin of polyallelism is attributed to the hereditary variability of the gene's temporal unit (chronon). As a result, the phenomenon of “anticipation” may also be interpreted, and the one-origin clinical and sub-clinical variability of diabetes be demonstrated.
Su di un Caso con Cariotipo XYY Emopatia Mediterranea ed Ipogammaglobulinemia
Authors: Tannoia N. , Guanti G. , Trizio D. , Barsanti P. , Bonomo L. 
Published: July 2016

SummaryThe case of a 13-year-old boy with Mediterranean disease, hypogammaglobulinemia and XYY sex-chromosome constitution is presented. The somatic cells contained 47 chromosomes. No chromosomal abnormalities were found in the parents and in the brother. The findings are discussed in relation to the previously reported cases of XYY males.
Twinning in Nigeria
Authors: Nylander P.P.S. 
Published: July 2016

SummaryTwinning rates in Nigeria are much higher than in Europe and USA, and appear to be highest in its western and eastern parts. The twinning incidence in a representative population in a town in Western Nigeria, Igbo-Ora, is approximately four times that in Europe and USA.Zygosity determination has shown that only 8.6% of newborn twin pairs in Ibadan are MZ, compared to approximately 30% in Caucasian populations. Studies in Igbo-Ora have also given similar results, confirming the view that high twinning incidence in Nigeria is due to a very high DZ twinning rate, the MZ rate being the same as in Europe and USA.The proportion of twins with monochorionic placentae in Ibadan is about 5%, against approximately 20% in UK and USA. The twinning rates in the two populations are 45‰ and 11‰ respectively. This inverse relation (between the twinning rate and the proportion of monochorionic placentae) may be used in calculating the twinning incidence in a population in which the proportion of twins with monochorionic placentation is known.
Syndrome de Waardenburg - Klein
Authors: François J. , Kluyskens P. , Matton-Van Leuven M. TH. , Manavian D. , Rysenaer L. 
Published: July 2016

SUMMARYIn a family with 528 members, in 7 generations, 162 (47% of the 347 examined patients) showed a Waardenburg syndrome. The frequencies of the different signs are as follows: lateral displacement of the canthi interni and lacrimal puncta: 76%; hyperplasia of the nose root: 54%; hyperplasia of the eyebrows: 52%; deafness: 9%; heterochromia of the iris: 9%; partial albinism: 6%.
Qualitative Value in Finger Prints – Mother/child Correlation
Authors: Brismar Bo 
Published: July 2016

SUMMARY1. The author has worked-out a new system of finger-prints analysis through bringing together the types of pattern of the various fingers to a total qualitative value of the following 5 types: A-pattern 2.3%, AL-pattern 3.5%, L-pattern 61.8%, LW-pattern 21.4%, W-pattern 11.0%.2. Calculations of frequency have shown that sex difference does not exist with respect to the various types of total qualitative value.3. Mother/child calculations of correlation in tetrachoric tables have given the following results:a) L/W: χ2 = 34.38; r = 0.46 ± 0.06;b) A, AL, L/LW, W: χ2 = 27.38; r = 0.31 ± 0.05;c) L/LW: χ2 = 3.75; r = 0.13 ± 0.07.
Der Verwandtschaftsgrad der Bevölkerung kleiner ländlicher Gemeinden
Authors: Bunak V. V. 
Published: July 2016

SUMMARYTo determine the small population as a specific group, several quantitative indexes have to be taken into consideration. The author, making use of these indexes, differentiates three types of small populations: the isolate, the « dem » and the « large dem ». The central type — the dem — is a group including 1,500 to 4,000 individuals with an increase of more than 20-25 per cent in 25 years (one generation); a high proportion, about 80 per cent, of the marriages is concluded inside the group and an insignificant part of the members have descended from allogenous ancestors. The inhabitants of a rural locality constitute in most cases a « dem ». Theoretical calculations as well as genealogical studies have shown that the preponderant part of adult members of a « dem » appear to be related to each other in the eighth degree (according to Tab. 2 - cousins thrice removed).