bluuebunny/crossref_metadata_2025 huggingface dataset:
Incorporation of Twins in the Regressive Logistic Model for Pedigree Disease Data
Authors: Hopper J.L. , Carlin J.B. , Macaskill G.T. , Derrick P.L. , Flander L.B. , Giles G.G.
Published: July 2016

Segregation and twin disease concordance analyses have assumed a theoretical underlying liability following a multivariate normal distribution. For reasons of computation, of incorporation of measured explanatory variables, and of testing of fit and assumptions, newer analytical methods are being developed. The regressive logistic model (RLM) relies on expressing the pedigree likelihood as a product of conditional probabilities, one for each individual. In addition to logistic regression modelling of measured epidemiological variables on disease prevalence, there is modelling of vertical transmission, of transmission of unmeasured genotypes and of sibship environment. This paper discusses methods for the analysis of binary traits in twins and in pedigrees. Some extensions to the RLM for pedigrees which include twins are proposed. These enable exploration of twin concordance in the context of the twins' common parenthood, the sibship similarities within the family, and the twins' similarity in age, sex, genes and environment.
Genetic Variance and Heritability of Serum Cholesterol and Triglycerides Among Chinese Twin Neonates
Authors: Chen C.-J. , Yu M.-W. , Wang C.-J. , Tong S.-L. , Tien M. , Lee T.-Y. , Lue H.-C. , Huang F.-Y. , Lan C.-C. , Yang K.-H. , Wang H.-C. , Shin H.-Y. , Liu C.-Y. , Chen J.-S.
Published: July 2016

In order to examine the genetic variance and heritability of serum total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) and triglycerides, a total of 349 pairs of same-sexed twin neonates born in four major general teaching hospitals in Taipei City were studied. Based on the placental pattern and 12 red blood cell antigens, 271 monozygotic (MZ) and 78 dizygotic (DZ) twin pairs were identified. There was a significant genetic variance for total cholesterol, HDL-C, LDL-C, and triglycerides both unadjusted and adjusted for sex, gestational age and placentation. The unadjusted heritability of total cholesterol, HDL-C, LDL-C, and triglycerides was 0.59, 0.30, 0.25 and 0.75, respectively; while the corresponding adjusted heritability was 0.74, 0.38, 0.31, and 0.49, respectively. Intrapair variance of serum lipids was not significantly different between monochorionic and dichorionic MZ twins.
A Fall in the Rate of Multiple Births in Ibadan and Igbo Ora, Nigeria
Authors: Marinho A.O. , Ilesanmi A.O. , Ladele O.A. , Asuni O.H. , Omigbodun A. , Oyejide C.O.
Published: July 2016

The twinning, triplet and quadruplet rates were found to be 23.8, 0.3 and 0.04 per thousand maternities, respectively in a survey of 71,773 maternities carried out in Ibadan and Igbo Ora, Nigeria. This represents a dramatic fall from the rates found in previous studies. The findings are discussed in the light of changing dietary habits.
Environmental Effects on Cardiovascular Risk Factors in Chinese Adolescent Monozygotic Twins
Authors: Chen C.J. , Cohen B.H. , Diamond E.L. , Lin T.M. , Chen J.S.
Published: July 2016

The monozygotic (MZ) cotwin control method was employed to elucidate possible environmental determinants of systolic blood pressure (SBP), diastolic blood pressure (DBP), serum cholesterol and triglyceride levels. A population-based twin sample of 73 male and 77 females MZ twin pairs was recruited from 12 junior high schools in Taipei city. Intrapair differences in blood pressure were negatively associated with intrapair difference in vegetable preference, attaining significance for DBP in males and SBP in females. Cholesterol was positively associated with milk consumption and preference for sweets, fried foods, meat and fish. A negative association was also observed between choleserol and vegetable preference. These associations for cholesterol were significant in males only. Triglyceride level negatively associated with preferences for sweets and vegetable, attaining significance for vegetables in both males and females and for sweets in males only.
Effects of Gene-Environment Interactions on Cardiovascular Risk Factors in Chinese Adolescent Twins
Authors: Chen C.J. , Cohen B.H. , Diamond E.L. , Lin T.M. , Chen J.S.
Published: July 2016

A population-based sample of 73 male and 77 female monozygotic (MZ), and 41 male and 33 female dizygotic (DZ) Chinese adolescent twin pairs were studied to assess effects of gene-environment interactions of systolic blood pressure (SBP), diastolic blood pressure (DBP), serum cholesterol and triglyceride levels. Intrapair concordance in BP levels was found to be significantly associated with the interaction of zygosity and salty foods preference and also with that of zygosity and vegetable preference. A consistently positive and statistically significant association was observed between the intrapair difference in serum cholesterol and the interaction of zygosity and animal organ preference; while intrapair concordance in serum cholesterol was associated with the interaction of zygosity and milk consumption. Intrapair difference in serum triglycerides was associated with the interaction of zygosity and fish preference, and a significant association was also found between the intrapair concordance in serum triglycerides and the interaction of zygosity and sweets preference. These observations suggest that the impact of these environmental agents may be influenced by the genotype.
High Resolution Atrial Depolarization of MZ Twins Detected by Surface Signal Averaging Technique
Authors: A. Sciacca  , Gedda L. , Campbell S. Villatico , Brenci G. , Maio F. Di , Verallo P. , Baciarello G.
Published: July 2016

High resolution tracings of atrial depolarization can be obtained by surface signal averaging technique. A study was conducted on 4 male and 4 female healthy MZ twin pairs aged 10.4 ± 1.3 yrs. Each subject underwent 3 or more recordings, at 10-days intervals. The essential reproducibility could be confirmed, with personal characteristics, as well as the reliability of the technique and the electrophysiological value of the spikes complex. In 3/8 pairs the cotwins showed a significant likeness of the atriogram, while in 5/8 pairs the tracings were not quite resembling between the twins and that is attributed to variations in the chronogenetic characteristics of MZ twins.
Distinguishing Fetal and Maternal Genetic Effects on Variation in Birth Weight
Authors: Magnus P.
Published: July 2016

In an attempt to uncover the causes of variation in birth weight for 13,970 offspring of MZ and DZ twins, several models were tested. Mean squares from nested analysis of variance were analysed with respect to fetal and maternal effects on variation in birth weight. The major part of the total variation in birth weight was found to be due to effects of genes. The contribution of fetal genes was larger than the contribution of maternal genes. About 11% of the variation could be attributed to effects of interactions between fetal and maternal genes. However, in this data set, the interaction variance could not be distinguished from variance due to fetal dominance or to effects of common environment of sibs.
Miscellaneous Clinical Case Reports in Twins
Authors: Gedda L. , Berard-Magistretti S. , Brenci G.
Published: July 2016

Three case reports are presented concerning 1) Albino MZ female twins, 2) Raynaud's syndrome in MZ female twins, and 3) Pseudohermaphroditism in MZ male twins.
Twinning and Inbreeding in India: The Fraternal Component
Authors: Goswami H.K.
Published: July 2016

It is suggested that the rise in a population depends not only on the number of females per thousand males, their fecundability, and the survival of offspring (mean live births), but also on the genetic background or inbreeding status of the fetuses. Abortions and stillbirths add to the interference. A hypothetical formula has been devised , where Mb = mean birth rate, G = growth percentage of population sample from preceding Census, F = inbreeding coefficient, Sa = Stillbirths + abortions, and Sr = Sex ratio. It is intriguing that the product, being termed Fraternal Component (FC), is found to be almost equal to the DZ twinning rate of the population sample. Should that be confirmed, one could perphaps estimate the DZ twinning rate by an altogether new approach.
The Offspring of Twins as Sampling Units in Pedigree Analysis of Congenital Anomalies
Authors: Kramer Andrew A. , Corey Linda
Published: July 2016

A statistical model was developed to determine the likelihood of a twin kinship, that is, the offspring of a pair of monozygotic or dizygotic twins under three types of inheritance: sporadic, single locus fetal genetic, and single locus maternal genetic. Samples of 8,000 kinships were simulated for a discrete trait under various hypotheses, and the likelihood determined for each type of etiology. The results indicated that the pedigree analysis procedures formulated here could efficiently detect sporadic or single locus effects with a power approaching 100%, although the parameter estimates obtained were slightly biased. Further analyses revealed that the type of pedigree analysis formulated in this study was found to have equivalent power for equal or unequal frequencies of kinships by the sex and zygosity of the twin parent. It was suggested that further studies be carried out that included the twins and spouses in the likelihood equations, as well as tests of more sophisticated models.
The Death of a Newborn Twin: How Can Support for Parents Be Improved?
Authors: Bryan Elizabeth M.
Published: July 2016

The experiences and needs of mothers who lose a newborn twin were explored by sending semistructured questionnaires to 14 bereaved mothers. All mothers continued to think of the surviving child as a twin. Six had feelings of resentment towards the survivor. All felt their loss had been underestimated. Support could be improved by acknowledging the mother's grief and encouraging her to talk about the dead baby. Zygosity should be determined and reminders, such as photographs (of the babies together) and ultrasound scans, provided. All parents should be offered counselling and the opportunity to meet similarly bereaved parents.
Twin Concordance for a Binary Trait. I. Statistical Models Illustrated With Data on Drinking Status
Authors: Hannah Murray C. , Hopper John L. , Mathews John D.
Published: July 2016

A flexible method based on maximum likelihood theory is introduced for the analysis of binary response data in twins. The method allows for explanatory variables such as age and sex, is free of the untestable distributional assumption of bivariate normality of liability, and makes more efficient use of the data available. The method is illustrated with preliminary data on drinking status in adult twins. Although there is some bias in the ascertainment of male dizygous twins, the results suggest that monozygous twins are more concordant than dizygous twins for drinking status.
Determinants of Birthweight of Twins
Authors: MacGillivray Ian
Published: July 2016

The low birthweight of twins compared with singletons is only slightly influenced by the higher congenital abnormality rate in twins, or the increased incidence of proteinuric pre-eclampsia in the mothers. Reduced intakes of energy food or of zinc, copper, and iron do not account for the lower birthweight. The main cause of low birthweight is preterm delivery, and this is more common in monozygotic than dizygotic twin pregnancies, due particularly to premature rupture of the membranes. The type of placentation did not influence the preterm onset of labor. Preterm labor in monozygotic twin pregnancies is associated with a very high boy:girl ratio, but this did not apply in dizygotic twin pregnancies.
Vitamin C and the Common Cold: A Second MZ Cotwin Control Study
Authors: Carr A.B. , Einstein R. , Lai L.Y.C. , Martin N.G. , Starmer G.A.
Published: July 2016

Self-reported cold data have been analyzed for 95 pairs of identical twins aged 14–64 who took part in a double-blind trial of vitamin C tablets. One member of each twin pair took a tablet containing 1 g vitamin C and the other took a well-matched placebo each day for 100 days. In the total sample there was no effect of vitamin C in preventing colds. However, subdivision of the data showed a significant preventive effect of the placebo in the 51 pairs living together and an equal and opposite preventive effect of the vitamin C in the 44 pairs living apart. The placebo effect in the pairs living together may be attributed to the large proportion who wrongly perceived which treatment they were taking. The reduction of colds in the vitamin C group of the pairs living apart was about 20%. There were significant correlations between cold symptoms reported and the personality trait of neuroticism. No side effects or substantive changes in serum biochemistry could be attributed to the vitamin C dose.
Determinants of Ridge Counts in MZ Twin Kinships
Authors: Phelan M. C. , Nance W. E. , Corey L. A.
Published: July 2016

The inheritance of total ridge count (TRC) was studied in 967 individuals from the families of 111 pairs of MZ twins. The sample included data on 47 male half-sibships with 227 offspring and 64 female half-sibships with 306 offspring. The males in this sample had a mean ridge count of 135 ± 2 and the females a mean ridge count of 124 ± 2. The distribution of scores for females showed evidence for significant skewness. For this reason, prior to the analysis, the data were corrected for sex and adjusted to normality using a power transformation. Nested analyses of variance were performed on the ridge counts from male and female half-sibships separately to derive estimates of among, between, and within-variance components. These estimates were then used in a nonlinear least squares program to estimate genetic and environmental parameters and to determine the goodness of fit of various models. A model which included additive genetic and dominance effects could not be rejected (P = 0.67) but did not fit the data as well as a simple additive genetic-random environmental model (P = 0.81). The addition of maternal effects to the latter model also provided a satisfactory fit (P = 0.68). However, there was no improvement in the goodness of fit over the simple model, and the estimated magnitude of the maternal effect was not significantly different from zero.
Forms of Family Reorganization Following the Birth of Twins
Authors: Robin M. , Josse D. , Tourrette C.
Published: July 2016

A survey questionnaire of 200 families with 2-month-old twins assesses the economic, social and psychological impact of the arrival of twins on family life. The study shows the extent of material difficulties mothers of twins are confronted with, and the ways they cope with them — recourse to mother's helpers, assistance from the father and other members of the family (analyzed in terms of parity and socioeconomic/cultural status), twincare organization strategies, and impact on the decision to stop working. The findings provide an overall picture of the real situation, a necessary prerequisite to an understanding of psychological problems.
Self- and Teacher-Rated School Adjustment in MZ and DZ Twins
Authors: Fischbein Siv
Published: July 2016

In a Swedish longitudinal twin study, teacher ratings of school adjustment were collected in grades 3 and 6 for approximately 80 pairs of MZ twins, 100 pairs of DZ like-sex twins, and 70 pairs of opposite-sex twins. These same groups of twins then rated their own school adjustment in grades 4 and 6 as seen by the home, the school, their classmates, and themselves.

A comparison of within-pair similarity for the different types of self-ratings tends to show more consistency and a higher concordance for MZ compared to DZ in grade 6 than in grade 4.

The teacher ratings tend to show a larger and more consistent difference between MZ and DZ than the twins' own ratings.

The results reported have certain implications for heritability estimates based on different types of ratings. Ratings by others thus seem to give the highest intraclass correlations, probably due to a certain halo effect. Self ratings, on the other hand, tend to fluctuate more over time at least for children before and at puberty. Also the construction of items seems to influence the magnitude of the correlations.
Similarities in Test Scores and Profiles of Kibbutz Twins and Singletons
Authors: Nathan Michael , Guttman Ruth
Published: July 2016

Resemblances on five cognitive tests were compared in fifty quartets of school children. Each quartet consisted of a twin pair (MZ or DZ) and a matched singleton pair from the same kibbutz peer group. Similarities of MZs and DZs on test scores essentially replicate those reported previously in other studies. The median correlation for singleton control pairs is 0.29, as compared with that of 0.26 reported in the Texas Adoption Study for unrelated children raised in the same home. In the two spatial tests, control pairs were as similar as the DZ pairs. This suggests a more powerful influence on shared environment in aspects of perceptual performance. A new structural analysis (POSAC) of individual profiles of test scores is presented. Comparison of space diagrams of MZ, DZ, and singleton pair profiles shows systematic differences in structure among the three groups, in accordance with the predicted levels of genetic influences. Such structural differences transcend mere differences in size of correlation, and may give more stringent evidence for the respective roles of genetics and environment.
Detecting Sex-Associated Variation With the Families of MZ and DZ Twins
Authors: Haley C.S.
Published: July 2016

Phenotypic variation in human population may contain contributions from a number of different sex-associated genetic influences. These influences include maternal effects, the effects of sex-linked loci, and the effects of sex-limited autosomally linked loci. The families produced by MZ and DZ twins provide statistics which permit the detection and estimation of these effects. In particular, they provide statistics derived from various types of age-matched half-sibs and cousins in addition to those derived from the more usually studied full-sib or parent-offspring relationships. Specific models for genetic maternal effects, sex-linkage and sex-limitation are used to explore the use of extended twin design for the detection of and the discrimination between various sex-associated effects. The sample sizes required to detect maternal effects and sex-linkage were considered for some simple cases and it is concluded that comparison derived from the progeny of twins will often provide better tests for these effects than those derived from parent-offspring comparison.
The Importance of Plasma Volume Expansion and Nutrition in Twin Pregnancy
Authors: Campbell D.M. , MacGillivray I.
Published: July 2016

Physiological adaptation including expansion in plasma volume is exaggerated in women with twin pregnancies. In singleton pregnancy and multiparous twin pregnancies there is an association between plasma volume expansion and birth weight, but this is not so in primigravid twin pregnancies. Women with twin pregnancies have a similar dietary intake to singleton pregnancies, but it is not known whether there are differences with parity or zygosity. Absorption and utilisation of nutrients may be increased to meet demands for extra fetal growth. Nutrient supply and plasma volume expansion will be further discussed and their association with birth weight presented.
Discordant Anencephaly in a Set of Triplets
Authors: D'Alton M.E. , Newton E.R. , Cetrulo C.L.
Published: July 2016

A 38-year-old woman, gravida 5, para 3, with a triplet prgnancy discordant for anencephaly, is reported. The diagnosis was made prenatally by ultrasound. Autopsy of the anencephalic member revealed small adrenal glands with absent fetal cortex, and a coincidental tetralogy of Fallot. Studies of the histocompatible lymphocyte antigens of both parents were performed and they failed to demonstrate HLA B-27. The literature on anencephaly in triplets is summarized. The association of congenital heart disease and HLA B-27 with anencephaly is discussed.
Cholinesterase, Arylesterase, and Lipoprotein Parameters in Twins
Authors: Boman Helge
Published: July 2016

A high heritability estimate was obtained for serum arylesterase activity level in a series of 40 male twin pairs (23 MZ, 17 DZ) aged 33–39 years. The heritability estimated for Cholinesterase activity was strikingly lower. In unrelated individuals a positive correlation between arylesterase, Cholinesterase, and various lipoprotein parameters appeared to support the suggestion that these enzymes interact with various lipoproteins at the molecular level. The nature of these associations is not known. It is, however, tempting to speculate that some of the hereditary influence on lipoprotein levels in man may be mediated through the genetic control of one or both of these enzymes.
Hereditary-Environmental Differentiation of General Neurotic, Obsessive, and Impulsive Hysterical Personality Traits
Authors: Torgersen Svenn
Published: July 2016

The inheritance of General Neurotic, Obsessive, and Impulsive Hysterical personality traits has been studied in a sample of 260 female and male adult same-sexed twins. At least one of the twins in each pair had been treated for neurotic or borderline disorders. The results showed that the General neurotic and the obsessive personality factor had a significantly but moderately high hereditary component. The same was also true for more than half of the 17 separate personality scales. No personality scales emerged as highly hereditary. Therefore, each item was analyzed separately, and items classified as either distinctly hereditary or environmental were placed in each of these two groups. The items of the two groups were separately factor-analyzed, and three hereditary and three environmental main factors emerged. The hereditary factors seemed to represent a basic core in the three personality factors of the total questionnaire, whereas the environmental factors could be explained as derivatives of early representation of the basic hereditary core, influenced by familial and cultural patterns.
Twins Living Apart Test: Progress Report
Authors: Gedda L. , Brenci G.
Published: July 2016

A new approach is proposed in twin research based on the study of twins who, though reared together, have subsequently lived apart for a period of at least five years. With respect to the more powerful study of twins reared apart, the twins living apart test has the advantages of being more realistic and affording easier access to sufficiently large samples. In this pilot study, the test has been applied to a sample of 92 monozygotic pairs now aged 35–45; 15 pairs were still living together and 77 had lived apart for over five years. As a first approach, comparisons have been made, in the cotwins of the two subsamples, with respect to the following traits: height, weight, presbyopia, presbyacusia, alcohol consumption, tobacco consumption, blood pressure (systolic and diastolic), dental caries, and hours of sleep.
Twin Pregnancies Following Induction of Ovulation: A Literature Review
Authors: Lamont John A.
Published: July 2016

A literature review of the occurrence of multiple pregnancies associated with artificial induction of ovulation is reported. This report considers three treatment schedules: (1) clomiphene citrate; (2) human pituitary gonadotrophin with human chorionic gonadotrophin; and (3) human menopausal gonadotrophin with human chorionic gonadotrophin. The majority of the increase in twinning is related to hyperstimulation of the ovary by these medications, resulting in dizygotic twinning. The true incidence of twin pregnancy cannot be calculated because the vital statistics of all nations report live birth rates. Increased rates of fetal wastage, late abortion and prematurity associated with the occurrence of multiple pregnancies are overlooked by these statistics. The increased incidence of twinning appears to be related to the type and dosage of medication used, and the patient's underlying problem.
The Aberdeen Obstetric Data Bank
Authors: Thompson Barbara , Samphier Mike , Hall Marion H.
Published: July 2016

An obstetric-neonatal-gynecological data bank has been developed for the Aberdeen District in Scotland and is now fully computerized. Within it, a twin register including over 550 pairs of known placentation and zygosity has developed.
Twin Concordance. A More General Model
Authors: Allen G. , Hrubec Z.
Published: July 2016

Estimation of the twin concordance rate for a disease often requires two stages. First, the disease is ascertained in a population or in a population sample, and such twins as are found with the disease become probands. Second, twin pairs with only one proband are further investigated and additional concordant pairs are thus discovered. A mathematical model is presented that allows for continuous variation in completeness of ascertainment in both stages, for correlation within pairs in the primary ascertainment process, and for correlation within pairs in occurrence of the disease. The concordance rate can be estimated by the proband method if secondary ascertainment is complete; other measures of concordance are accurate only if primary ascertainment is complete. A parameter analogous to the concordance rate but related to correlation in primary ascertainment can be estimated from the same data.
The Acardiac Anomaly. New Case Reports and Current Status
Authors: Kaplan C. , Benirschke K.
Published: July 2016

Two cases of holoacardius are presented. Both had a normal 46,XX female karyotype, identical to that of their respective cotwin. Data are presented supporting the concept that the placental vascular anastomoses are the primary agents in the formation of an acardiac. Cytogenetics, epidemiology and other theories of pathogenesis are discussed.
Heritability Estimates from Twin Studies. I. Formulae of Heritability Estimates
Authors: Kang K.W. , Christian J.C. , Norton J.A.
Published: July 2016

Over the past 50 years a large number of methods have been proposed for estimating heritability from twin studies. The present paper describes the most commonly cited of these estimates as a first step in evaluating their usefulness. A critical review will then follow.
Incidence of Twin Births in Denmark from 1911 to 1974
Authors: Nielsen Johannes , Homma Akira , Isaksen Bo , Bertelsen Aksel
Published: July 2016

A survey of twin births in Denmark in relation to the total number of births from 1911 to 1974 shows a significant decrease in the dizygotic twin birth rate for all maternal age groups. The possible environmental causes of such a decrease are discussed.
Delineation of Syndromes Due to Partial 6q Imbalances. Trisomy 6q21→qter and Monosomy 6q221→qter in Two Unrelated Patients
Authors: Dallapiccola B. , Bricarelli Franca Dagna , Quartino A. Rasore , Mazzilli Maria Cristina , Chisci Rosanna , Gandini E.
Published: July 2016

Two unrelated patients carrying imbalances involving the long arm of chromosome 6 are described. In the first trisomy 6q21→qter had segregated from a maternal translocation t(6 ; 16)(q15 ; q24). The clinical data of the proposita are compared with those of three other published cases. A partial 6q trisomy syndrome is postulated characterized by: growth deficiency of prenatal onset, psychomotor retardation, craniofacial abnormalities (microcephalia, hypertelorism, downward slanting palpebral fissures, flattened nasal bridge, long philtrum, hypoplastic perioral features, large jaw resulting in a round appearance of the face, receding chin, malformed ears) and dysmorphic extremities (contractures of limbs due to short flexor tendons, hypoplastic fingers, toes and nails). In the second case, monosomy 6q221→qter resulted from a de novo rearrangement and was responsible for mental retardation and facial dysmorphism (reduced biparietal diameter, hypotelorism, absent eyebrows, prominent nose, ptosis, receding chin, dysmorphic ears). Studies of HLA and PGM3 segregation showed normal inheritance patterns and ruled out the location of these genes in bands 6q221→qter.
On the Nature of Syndrome Delineation
Authors: Cohen M. Michael
Published: July 2016

Perhaps half of all patients with multiple abnormalities have known, recognized syndromes. The other half represent unknown entities that need to be further delineated. The significance of syndrome delineation cannot be overestimated. As an unknown syndrome becomes delineated, its phenotypic spectrum, its natural history, and its risk of recurrence become known, allowing for better patient care and family counseling.

The process of syndrome delineation is discussed in terms of unknown genesis syndromes of the provisionally-unique and recurrent-pattern types, and known-genesis syndromes of the pedigree, chromosomal biochemical-defect, and environmentally-induced types. Several special syndrome categories are defined, including the chance syndrome, variant additive syndrome, association syndrome, exceptional chromosomal syndrome, and exceptional monogenic syndrome. Finally, a population definition of a syndrome is developed.
Onset of Puberty in MZ and DZ Twins
Authors: Fischbein Siv
Published: July 2016

A twin study on the significance of genetic factors for the variation in peak height and peak weight velocity, as well as in age at menarche and the development of secondary sex characteristics, is presented. Evidence of a rather strong genetic regulation of the occurrence of puberty was obtained in the analysis. The maximal height or weight gain (in cm/year or kg/year) seems to be, at least in girls, less influenced by genetic factors than the age at which it appears.
Follow-Up Investigation of a Familial Translocation 14/18
Authors: Schwanitz G. , Hägele CH. , Schmid P.
Published: July 2016

A follow-up investigation of a family 14/18 translocation has shown the first affected child to be followed by a healthy boy and by a similarly affected girl.
Dermatoglyphics Study of the Shompen of Great Nicobar
Authors: Krishan Gopal
Published: July 2016

The finger and palm prints of 20 male and 18 female Shompen of Great Nicobar were examined. The distribution of finger patterns and of palmar main line formulae showed significant sex differences. Main line index was higher on right than on left hands in both sexes. Axial triradius t was most frequently observed on both hands in the two sexes.
La Mortalité Infantile: Hérédité et Milieu
Authors: Philippe Pierre
Published: July 2016

An analysis of familial liability to infant mortality is presented. Heritability estimates for three periods of the demographic evolution of an isolated population (Isle-aux-Coudres, Quebec) are provided. Average heritability is on the order of 27%. This is interpreted as being partly due to sibs common environment and partly to dominance variance effects of genes. The real additive variance of the familial liability might well be nil.
Blood Group Mythology: Present Status
Authors: Wiener Alexander S.
Published: July 2016

The discovery of a great multiplicity of previously unknown facts and principles has served to develop the field of blood grouping into an important complex science. The formidable task of mastering the now highly complex field of blood grouping has been facilitated by the avallability of a comprehensive text on almost all aspects of the subject, which is now in its sixth edition. This invaluable source book is widely used by advanced workers in the field as well as by beginners, and is treated as the bible on the subject to the exclusion of all other texts. However, the so-called bible has serious scientific faults in that important basic principies are ignored, and certain important basic facts are distorted or misrepresented. Fortunately, other texts are available which are free of these faults, and the use of a single book as the sole source of knowledge concerning the subject has by implication given rise to the myth that the book in question is infallible and may be used alone to the exclusion of all other sources of information. The purpose of the present review has been, not to detract from the well recognized merits of the important “blood group bible” but to point out its limitations, and to point out the existence of other sources which, while not as comprehensive, are free of mythology. If this review serves to remind the readers to consult other sources in addition to the blood group bible, it will have served its purpose, and this may lead to further advances in the field of blood grouping as well as help do away with the thriving field of blood group mythology.
The Chronogenetics of Caries in Primary Dentition
Authors: Gedda L. , Brenci G. , Oddi G.
Published: July 2016

A chronogenetic analysis of caries has been carried out in a sample of 100 twin pairs (27 MZ, 64 DZ, 9 UZ) aged 3-8 years, taking into account the number of decayed teeth and the intensity and severity of caries. Heritability estimates, calculated for each of the various parameters considered, support the hypothesis of a genetic control of the time of onset of caries.
Biometrische Beitrage Zur Anwendung Von Multiplen Co Varianzanalysen Bei Quantitativen Humangenetischen Fragestellungen
Authors: Rempe Udo , Hosenfeld Detlev
Published: July 2016

The analysis of quantitative inheritance is complicated by age dependent changes. It is possible to describe them by two separate 5-degree polynomials for boys and girls of one family. Supposing a parallel shifting of these pairs of curves for different families, it is possible to calculate the mean course of such a family specific pair even if only a few children were examined at a few termins. By use of these fitted functions it is possible to estimate the value of the quantitative variable for the examined children at a constant age and to eliminate the influence of sex. Similarly, it is possible to eliminate age-caused differences of the parents. Using the age-corrected values of children, mothers and fathers, it is possible to investigate the relations between the values of parents {not midparents !) and children by means of a two-dimensional polynomial approximation. The resulting complicated formulas can be visualized by plotting lines of equal character values of the children in a diagram with the character values of the fathers on the ordinate and those of the mothers on the abscissa. Effects of dominance and of epistasis can be demonstrated by this method. Some results using data of enzyme activities as an example are discussed.
A Proposed Test of the Difference Between the Means of Monozygotic And Dizygotic Twins
Authors: Christian J.C. , Norton J.A.
Published: July 2016

The rationale for using an approximate t′ test of the difference between the means of MZ and DZ twins is presented. This test avoids pooling the among-MZ and among-DZ twin-pair mean squares and has approximate degrees of freedom based upon the relative number of MZ and DZ twin pairs as well as the relative sizes of the among-MZ and among-DZ twin-pair mean squares. Sampling experiments simulating twin studies were used to show that the rate of Type I error for this t′ test was appropriate while other tests could give either too many or too few Type I errors depending upon the relative sizes of the mean squares and the relative numbers of MZ and DZ twin pairs.
Intrapair Difference in Personality Traits, and Emotional and Social Adjustment in Monozygotic Twins
Authors: Torgersen Svenn
Published: July 2016

During the last decade, there has been a growing interest in the advantages that MZ twin pairs offer for studying the effect of environmental factors on the development of emotional disturbances. Much of this research has been aimed at investigating the relationship between childhood differences and later discordance with regard to schizophrenia in MZ twin pairs. A few studies have used similar methodology to investigate the development of neurotic reactions. There has been very little work dealing with the causes of discordance in the normal personality development of MZ twin pairs. The paper presents some of the results from a larger twin project which show the relationship between childhood differences and differences in adulthood. The study examined differences in oral, obsessive, and hysterical personality traits, as well as differences in phobic fears, general neurotic symptomatology, occupational and marriage adjustment in 50 relatively unselected MZ twin pairs. The results show that many of the same childhood differences which have been reported to be associated with the discordance found in regard to schizophrenia and neuroses, are also related to differences in personality structure, emotional and social adjustment in less disturbed MZ twin pairs. Other childhood differences, however, seem to be more specifically related either to neurotic or to normal personality development, pointing to the importance of studying the relationship between specific intrapair differences in childhood and differences in various areas of later personality development.
Simulation of Twin Data Controlling Population Mean, Variance, Skewness and Kurtosis
Authors: Christian Joe C. , Bailey Joan E. , Evans Mary M. , Kang K. W. , Norton James A. , Yu P.L.
Published: July 2016

A computer system for simulation of quantitative twin data is being developed. The capability is being built in to simulate distributions with known means, standard deviations, skewness and kurtosis.
Urinary Mucopolysaccharides in Acheiropodia
Authors: Mourão P.A.S. , Toledo S.P.A. , Dietrich C.P.
Published: July 2016

Urinary mucopolysaccharides from three patients with acheiropodia were qualitatively and quantitatively analysed by agar gel electrophoresis coupled with enzymatic degradation. Although no abnormal pattern was characterized, eventual metabolic dysfunction detected only in bone/cartilage tissues could not be ruled out.
Serum Haptoglobin Phenotypes and Duodenal Ulcer
Authors: Tsoukantas A. , Archimandrites A. , Theodoropoulos G. , Katsavochristos K. , Melissinos K.
Published: July 2016

Serum haptoglobin phenotypes were studied in 100 Greek patients suffering from duodenal ulcer by vertical starch gel electrophoresis. A sample of 2026 healthy subjects served as control. No statistically significant differences were found in Hp phenotypes and gene frequencies between patients and healthy controls.
Possible Role of the Cytoplasm in the
Course of Morphogenesis, Namely, in the Case of
Twinning
Authors: Giroud A.
Published: July 2016

A number of facts that cannot be
interpreted in terms of nuclear genes would seem
to be interpretable in terms of cytoplasmic
heredity. The hereditary role of the mitochondria
has already been demonstrated in molds. The role
of the cytoplasm (matrilineal heredity) has also
been shown in some phanerogams, and analogous
facts have been noted in insects and molluscs. In
amphibians, the influence of an alteration of the
egg cortical cytoplasm has been shown to reappear
in the following generations. This cortical
cytoplasm includes the morphological plan of the
organism with its bilateral symmetry: mirror
imaging in monozygotic twins would only be an
extension of bilateral symmetry. In
Tatusia novemcincta the
twins may be morphologically or chemically
different, which may only be explained by an
unequal subdivision of a heterogenic cytoplasm.
Similar facts are observed in human twinning.
Monozygotic twins are usually discordant with
respect to congenital malformations (especially
symmelia and anencephaly), which may only be
interpreted in terms of unequal distribution of
cytoplasmic properties.
Dermatoglyphic Studies in Patients with
Cooley's Anemia and Cooley's Trait
Authors: Dallapiccola B. , Capra L. , Baricordi O. , Mazzilli C.
Published: July 2016

The dermatoglyphic analysis of a group of
Italian patients with Cooley's anemia and Cooley's
trait shows Cooley's anemia patients to undergo a
significant increase of loops on fingers and a
corresponding decrease of whorls. The total loops
frequency correlates negatively with the ridge
distribution per loop and the total ridge count is
significantly decreased. The atd angles are
larger. Minor changes in the distribution of
patterns in the thenar and hypothenar areas are
also observed. In the Cooley's trait patients,
loops on fingers are more frequent than in
controls, but no difference with Cooley's anemia
series is observed. The above findings suggest
that the gene(s) controlling loops formation in
linkage disequilibrium with thalassemia mutant may
have been favourably selected on the “thalassemia
chromosome” in the malaria environment.
Genetic Counseling in Congenital
Deafness
Authors: François J. , Bie S. De , Leuven M.Th. Matton-Van
Published: July 2016

The risk of having a child affected by
isolated congenital deafness (or deafmutism) is
high, if the two parents are affected, if only one
parent is affected, but belonging to an affected
family, and if the couple has already an affected
child.
Trisomy 2q
Authors: Dallapiccola B. , Forabosco A. , Calabro A.
Published: July 2016

Two unrelated patients with trisomy 2q32 →
q37, resulting from maternal balanced
translocations t(2; 13) (q32 q33) and t(2; 15)
(q32 q26) are reported. Comparison of the clinical
findings suggests that trisomy 2q is associated
with a rather characteristic constellation of
symptoms and malformations.
Modified Method of C Banding Using Barium
Hydroxide
Authors: Ghosh P.K. , Singh Indera P.
Published: July 2016

A modified centromeric heterochromatin
banding technique using barium hydroxide
octahydrate is described. The relationship between
slide maturity and time of denaturation by
barium-hydroxide is discussed.
Inclination of Longitudinal Axis of
Palmarprint with Intertriradial Distance a-d,
PMPC, and DWC
Authors: Sharma A. , Sapra P. , Mainigi K.
Published: July 2016

The wide fluctuations of the three angular
measurements, a-d, PMPC, and DWC with longitudinal
axis make palmar projective breadth (PB) the ideal
standard axis for any work involving the
quantitative estimates of longitudinal and
transverse trends of palmar triradii.
Erythrocyte Galactose-1-Phosphate
Uridyltransferase and Galactokinase Levels in
Twins
Authors: Cholnoky P. , Sitzmann F.C. , Teubl I. , Kaloud H.
Published: July 2016

The levels of the two enzymes, GAL-1-PUT
and GAL-KIN, have been examined in a sample of 35
MZ and 45 DZ twin pairs of both sexes. The
activities of these enzymes do not appear to be
influenced by sex. The role of genetic factors
appears to be rather limited in the case of
GAL-1-PUT, but much higher in the case of
GAL-KIN.
The Gm and Inv Factors in Rheumatoid
Arthritis
Authors: Archimandrite A. , Kalos A. , Papakonstantinou G. , Babionitakis A. , Theodoropoulos G. , Dimitriadis P.
Published: July 2016

The Gm(1), Gm(2), Gm(4), Gm(12), and
Inv(1) factors were studied in the sera of 56
patients suffering from rheumatoid arthritis and
26 from various rheumatic diseases, by the
hemagglutination inhibition test, using optimally
reacting mixtures of Ragg and Nagg sera. The
distribution of these factors was found to agree
with that of healthy Greeks. No correlation was
found between hypergammaglobulinemia and the
discovery of the Gm(1) and Inv(1) factors. The
presence of the rheumatoid factor was independent
of the Gm and Inv phenotypes.
Mid-Phalangeal Hair, Hand Clasping and
Handedness Among Khatris and Baniyas of Patiala,
India
Authors: Singh Lakhbir , Goel Karam Vir
Published: July 2016

Mid-phalangeal hair, hand clasping and
handedness have been examined in 425 adult
subjects from two endogamous groups of Patiala,
Hindu Khatris (230) and Baniyas (195). In a
majority of subjects (53.73 % in males and 46.35%
in females) mid-phalangeal hair appears to be
completely absent. The highest frequency of this
trait is found in the combination III-IV and, when
considering individual digits, on IV (around 50%).
As for hand clasping, R-type appears to be more
frequent in Khatris and L-type in Baniyas. Right
handedness appears to be by large more frequent in
both groups and sexes.
Differential Acridine Orange Staining of Human Chromosomes
Authors: Castoldi G.L. , Grusovin G.D. , Scapoli G.L. , Spanedda R.
Published: July 2016

The acridine orange staining of metaphases previously treated with hot salt solutions, exhibits a differential banding pattern of the chromosomes. According to the physicochemical interpretation of the stained structures, the green and red fluorescent segments of the chromosomes should be considered as constituted respectively by double-stranded DNA and single-stranded DNA. The banding pattern is relatively consistent in different metaphases, although some occasional variations of the bands may be referred to the interference of chromosomal acid proteins. In general, the sequence of the bands is compatible with the picture of the reverse banding.
Robin's Syndrome in Three Children of Consanguineous Parents —A Pedigree Suggesting Autosomal Recessive Inheritance
Authors: Russo Giuseppe , Mollica Florindo , Pavone Lorenzo , Musumeci Salvatore
Published: July 2016

A family is described in which three siblings were affected by Robin's syndrome (micrognathia and glossoptosis with cleft palate) in its severe form. Two children died very early in life, the third is surviving after surgical management and appropriate nursing care. The children were born from a consanguineous marriage (their parents were first cousins). This pedigree is highly suggestive of an autosomal recessive kind of inheritance. Malformations of the extremities (hands and/or feet) were present in the probands as well as in two relatives of the paternal line.
Twins in Myth
Authors: Rachewiltz B. De , Parisi P. , Castellani V.
Published: July 2016

Twins have an important place in mythology and a sacred character appears to be attached to them since the most ancient times. In ancient Egypt, the royal placenta was worshipped, being considered as the Pharao's twin (a conception that is still alive among certain African populations), and actually everyone was considered to possess a spiritual twin, the Ka or astral body, through whom it was supposed to be possible to operate with magic rituals and hit enemies. Twin gods were worshipped by Babylonians and Assyrians (who even introduced them among astronomic constellations), and may be also found in the Persian and Veda religions. In the classic, Greco-Roman world, the examples of twin gods and heroes are innumerable: from the twin sons of Zeus, the Dioscuri, to the opposite-sexed twin gods Apollo and Diana, to Rome's founders, Romulus and Remus, etc. Since the most ancient times, a magic conception is connected to the twins, either in a positive or a negative sense, but often with some kind of a “fatidic” aspect. Such a two-faced approach to the phenomenon of twinning, that variously characterizes neareast, protomediterranean, classic, and other ancient civilizations, may still be found in contemporary primitive societies.
A Case of Conjoined Twins
Authors: Myrianthopoulos Ntinos C. , de la Burdé Brigitte
Published: July 2016

Among 56,249 maternities in the Collaborative Perinatal Project, 615 were twin maternities. One of these resulted in stillborn thoracoomphalopagus MZ female twins with multiple cardiovascular, alimentary and other malformations. The case is of further interst in that the mother had a surgically removed brain tumor in childhood and exhibited neurological symptoms and bizarre behavior before and during pregnancy. Drugs and treatments which she received during pregnancy are not known to be teratogenic.