Concurrence of Morgagni's Syndrome, Schizophrenia and Adenomatous Goiter in Monozygotic Twins

1953 ◽  
Vol 2 (3) ◽  
pp. 431-446 ◽  
Author(s):  
Bertha M. Aschner ◽  
Franz J. Kallmann ◽  
Leo Roizin
Keyword(s):  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Common Denominator ◽  
Genetic Theory ◽  
Adenomatous Goiter ◽  
Autosomal Dominance

SummaryClinical and histopathological data are presented on monozygotic twin sisters concordant as to schizophrenia, Morgagni's syndrome, and adenomatous goiter. The association of the three traits may have been coincidental, but apparently had a common denominator. The genetic theory of Morgagni's syndrome (pointing to autosomal dominance with irregular penetrance and especially low manifestation in the male) is discussed.

Associations between insulin-like growth factor-I (IGF-I), IGF-binding protein-1, insulin and other metabolic measures after controlling for genetic influences: results from middle-aged and elderly monozygotic twins

1997 ◽  
Vol 153 (2) ◽  
pp. 251-257 ◽  
Author(s):  
Y Hong ◽  
K Brismar ◽  
K Hall ◽  
N L Pedersen ◽  
U de Faire
Keyword(s):  
Genetic Variation ◽  
Growth Factor ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Genetic Influences ◽  
Insulin Like Growth Factor ◽  
Factor I ◽  
Igf I ◽  
Igf Binding ◽  
Igf Binding Protein

Abstract It has previously been shown that the serum levels of insulin-like growth factor-I (IGF-I), IGF-binding protein-1 (IGFBP-1), and insulin are influenced by genetic effects to various degrees. From a clinical and preventive point of view, however, it is important to identify potentially modifiable non-genetic factors influencing the levels of these measures. Because monozygotic twin pairs share the same genetic background, differences in phenotypic levels within monozygotic twin pairs are believed to be due to non-genetic influences. Accordingly, the associations between intrapair differences in one phenotype and intrapair differences in another phenotype are also due to non-genetic influences. The present sample of 97 pairs of monozygotic twins from the population-based Swedish Adoption/Twin Study of Aging (SATSA) provided the opportunity to assess non-genetic influences on the levels of IGF-I, IGFBP-1, and insulin. Several metabolic measures were found to account for the variation of IGF-I, IGFBP-1, and insulin after controlling for the genetic influences. IGFBP-1 and glucose were significant predictors for the levels of IGF-I. IGFBP-1 and glucose together explained about one quarter of the non-genetic variation of IGF-I. However, when IGFBP-1 was dropped from the regression model, insulin was the only independent predictor of IGF-I, and explained about 19% of the non-genetic variation for IGF-I. For IGFBP-1, insulin and IGF-I were the significant non-genetic predictors. Insulin and IGF-I explained about 28 and 8% respectively of the non-genetic variation for IGFBP-1, while for insulin, IGF-I, triglycerides, body height, glucose, and body mass index (BMI) explained approximately 20, 12, 6, 5 and 5% respectively of the non-genetic variation. Journal of Endocrinology (1997) 153, 251–257

scholarly journals Articulatory and acoustic inter-speaker variability in the production of German vowels

2010 ◽  
Vol 52 ◽  
pp. 19-42
Author(s):  
Melanie Weirich
Keyword(s):  
Genetic Similarity ◽  
Strong Influence ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Shared Environment ◽  
Acoustic Similarity ◽  
Speaker Variability ◽  
Electromagnetic Articulography ◽  
Shared Time ◽  
The Impact

This study examines articulatory and acoustic inter-speaker variability in the production of the German vowels /i/, /u/ and /a/. Our subjects are 3 monozygotic twin pairs (2 female and 1 male pair) and 2 dizygotic female twin pairs. All of them were born, raised and are still living in Berlin and see their twin brother or sister regularly. We assume that monozygotic twins that are genetically identical and share the same physiology should be more similar in their articulation than dizygotic twins but that the shared time and social environment of twins, regardless of their genetic similarity, also plays a crucial role in the acoustic similarity of twins. Articulatory measurements were made with EMA (Electromagnetic Articulography) and the target positions of the produced vowels were analyzed. Additionally, the formants F1-F4 of each vowel were measured and compared within the twin pairs. Our data seems to point out the importance of a shared environment and the strong influence of learning over the anatomical identity of the monozygotic twins regarding the production of vowels. But, additional results suggest (1) the impact of physiology on the production of a vowel following a velar consonant and (2) the interaction of physiology and stress in inter-speaker variability.  

On the Statistical Significance of one Pair of Monozygotic Twins in Clinical Genetics

1963 ◽  
Vol 12 (4) ◽  
pp. 317-323
Author(s):  
L. Gedda
Keyword(s):  
Twin Pair ◽  
Statistical Significance ◽  
Statistical Treatment ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Clinical Genetics ◽  
Pair Comparison ◽  
Monozygotic Twin Pair ◽  
Development Result

SUMMARYA case of one twin pair concordant or discordant as to a given disease is always very important for Clinical Genetics, especially when it is monozygotic. In Clinical Genetics, isolated pairs occur to the physician, and the diagnosis must therefore be based on intra-pair comparison. The statistical treatment of the case must consider the fact that a concordant monozygotic twin pair represents a statistical universe rather than a statistical unit. This entails taking into account many traits concerning the time of onset, the symptoms, development, result of treatment, etc. Suggestions are made for the statistical treatment of such cases.

Mental and Motor Development in Monozygotic Co-Twins With Dissimilar Birth Weights

PEDIATRICS ◽  
1974 ◽  
Vol 53 (6) ◽  
pp. 884-889
Author(s):  
Toshio Fujikura ◽  
Luz A. Froehlich
Keyword(s):  
Birth Weight ◽  
Human Brain ◽  
Motor Development ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Mental Development

Developmental measures in 125 monozygotic twin sets with unequal birth weights between co-twins were studied. There were no significant differences between co-twins in the Bayley Mental and Motor Scores at 8 months nor the Stanford-Binet IQ at 4 years. A reportedly higher IQ for the heavier of monozygotic twins was not confirmed in this study, even among pairs with large birth-weight differences. Although the effects of nutrition on the mental development of the fetus are currently of great concern, these data suggest that the developing human brain seems to have a strong resistance to intrauterine deprivation.

scholarly journals Immune signatures of prodromal multiple sclerosis in monozygotic twins

2020 ◽  
Vol 117 (35) ◽  
pp. 21546-21556 ◽  
Author(s):  
Lisa Ann Gerdes ◽  
Claudia Janoschka ◽  
Maria Eveslage ◽  
Bianca Mannig ◽  
Timo Wirth ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
T Cell ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
T Cell Subsets ◽  
Effector T Cell ◽  
Immune Signatures ◽  
Relapsing Remitting ◽  
Immune Traits

The tremendous heterogeneity of the human population presents a major obstacle in understanding how autoimmune diseases like multiple sclerosis (MS) contribute to variations in human peripheral immune signatures. To minimize heterogeneity, we made use of a unique cohort of 43 monozygotic twin pairs clinically discordant for MS and searched for disease-related peripheral immune signatures in a systems biology approach covering a broad range of adaptive and innate immune populations on the protein level. Despite disease discordance, the immune signatures of MS-affected and unaffected cotwins were remarkably similar. Twinship alone contributed 56% of the immune variation, whereas MS explained 1 to 2% of the immune variance. Notably, distinct traits in CD4+effector T cell subsets emerged when we focused on a subgroup of twins with signs of subclinical, prodromal MS in the clinically healthy cotwin. Some of these early-disease immune traits were confirmed in a second independent cohort of untreated early relapsing-remitting MS patients. Early involvement of effector T cell subsets thus points to a key role of T cells in MS disease initiation.

scholarly journals Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate

2019 ◽  
Vol 33 ◽  
pp. 205873841985587
Author(s):  
Luca Scapoli ◽  
Francesco Carinci ◽  
Annalisa Palmieri ◽  
Francesca Cura ◽  
Alessandro Baj ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Copy Number ◽  
Large Scale ◽  
Cleft Lip ◽  
Small Sample Size ◽  
Copy Number Variants ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Small Sample ◽  
High Level

Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a frequent orofacial malformation. The comparison of concordance rate observed in monozygotic and dizygotic twins supports high level of heritability and a strong genetic component. However, phenotype concordance for orofacial cleft in monozygotic twins is about 50%. The aim of the present investigation was to detect postzygotic events that may account for discordance in monozygotic twins. High-density SNP microarrays hybridization was used to genotype two pairs of monozygotic twins discordant for nsCL/P. Discordant SNP genotypes and copy number variants were analyzed to identify genetic differences responsible of phenotype discrepancy. A number of differences were observed, none involving known nsCL/P candidate genes or genomic regions. Considering the limitation of the study, related to the small sample size and to the large-scale investigation method, the results suggest that the detection of discordant events in other monozygotic twin pairs would be remarkable and warrant further investigations.

scholarly journals Developmental excitation-inhibition imbalance underlying psychoses revealed by single-cell analyses of discordant twins-derived cerebral organoids

2020 ◽  
Vol 25 (11) ◽  
pp. 2695-2711
Author(s):  
Tomoyo Sawada ◽  
Thomas E. Chater ◽  
Yohei Sasagawa ◽  
Mika Yoshimura ◽  
Noriko Fujimori-Tonou ◽  
...  
Keyword(s):  
Single Cell ◽  
Neural Progenitor Cells ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Inhibitory Neurons ◽  
Cellular Mechanisms ◽  
Cell Type Specific ◽  
Discordant Twins ◽  
Induced Pluripotent ◽  
Human Brains

Abstract Despite extensive genetic and neuroimaging studies, detailed cellular mechanisms underlying schizophrenia and bipolar disorder remain poorly understood. Recent progress in single-cell RNA sequencing (scRNA-seq) technologies enables identification of cell-type-specific pathophysiology. However, its application to psychiatric disorders is challenging because of methodological difficulties in analyzing human brains and the confounds due to a lifetime of illness. Brain organoids derived from induced pluripotent stem cells (iPSCs) of the patients are a powerful avenue to investigate the pathophysiological processes. Here, we generated iPSC-derived cerebral organoids from monozygotic twins discordant for psychosis. scRNA-seq analysis of the organoids revealed enhanced GABAergic specification and reduced cell proliferation following diminished Wnt signaling in the patient, which was confirmed in iPSC-derived forebrain neuronal cells. Two additional monozygotic twin pairs discordant for schizophrenia also confirmed the excess GABAergic specification of the patients’ neural progenitor cells. With a well-controlled genetic background, our data suggest that unbalanced specification of excitatory and inhibitory neurons during cortical development underlies psychoses.

Diskordanzursachen bei erbgleichen Zwillingen

1952 ◽  
Vol 1 (1) ◽  
pp. 89-102 ◽  
Author(s):  
Hans Grebe
Keyword(s):  
Twin Pair ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Intrauterine Life ◽  
Monozygotic Twin Pair ◽  
Coloboma Of The Iris

This article discusses the major differences which can be fuond from time to time in homozygotic twins. In some instances there may be differences in manifestation, as in the case of a pair of monozygotic twins, aged 12, with concordant dysplasia of the hipjoint but with different radiological pictures. Differences may also be due to particular incidents during intrauterine life, alterations in growth resulting from hormonal disturbances etc. In some cases the cause of the differences is not known and, as an example, the author cites a monozygotic twin-pair aged 10, one member of which is much retarded in growth while the co-twin suffers from coloboma of the iris.

Use of Monozygotic Twins in Search for Breast Cancer Susceptibility Loci

Twin Research ◽  
2001 ◽  
Vol 4 (4) ◽  
pp. 251-259 ◽  
Author(s):  
Asta Försti ◽  
Qianren Jin ◽  
Lena Sundqvist ◽  
Magnus Söderberg ◽  
Kari Hemminki
Keyword(s):  
Breast Cancer ◽  
Cancer Susceptibility ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Tumour Suppressor ◽  
Tumour Suppressor Genes ◽  
Suppressor Genes ◽  
Twin Model

AbstractWe have used Swedish monozygotic twins concordant for breast cancer to study genetic changes associated with the development of breast cancer. Because loss of heterozygosity (LOH) at a specific genomic region may reflect the presence of a tumour suppressor gene, loss of the same allele in both of the twins concordant for breast cancer may pinpoint a tumour suppressor gene that confers a strong predisposition to breast cancer. DNA samples extracted from the matched tumour and normal tissues of nine twin pairs were analysed for allelic imbalance using a set of microsatellite markers on chromosomes 1, 13, 16 and 17, containing loci with known tumour suppressor genes. The two main regions, where more twin pairs than expected had lost the same allele, were located at 16qtel, including markers D16S393, D16S305 and D16S413, and at 17p13, distal to the p53 locus. Our results show that the monozygotic twin model can be used to suggest candidate regions of potential tumour suppressor genes, even with a limited number of twin pairs.

Separate Occurrence of Extra-adrenal Paraganglioma and Gastrointestinal Stromal Tumor in Monozygotic Twins: Probable Familial Carney Syndrome

2004 ◽  
Vol 7 (4) ◽  
pp. 380-384 ◽  
Author(s):  
Liliane Boccon-Gibod ◽  
Françoise Boman ◽  
Sabah Boudjemaa ◽  
Monique Fabre ◽  
Guy Leverger ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Stromal Tumor ◽  
Gastric Gist ◽  
Carney Triad ◽  
Pulmonary Chondroma ◽  
Carney Syndrome ◽  
Extra Adrenal Paraganglioma

The nonfamilial Carney triad includes paraganglioma, gastrointestinal stromal tumor (GIST), and pulmonary chondroma. Some paraganglioma-GIST diads are familial and inherited in an apparent autosomal dominant manner. The familial paraganglioma-GIST syndrome differs from the Carney triad by the absence of female predilection and predominance of paragangliomas. We report the cases of a 12-year-old boy with a paraganglioma of the organ of Zuckerkandl, and his 13-year-old monozygotic twin with a gastric GIST. These two patients, to our knowledge, are the first to be reported as likely having the familial paraganglioma-GIST syndrome following its description by Carney and Stratakis (Am J Med Genet 2002;108:132–139) in 12 patients from five families. A lifetime follow-up and a periodic search for both tumors are indicated in these patients and their families.

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