Aplasia subtotale degli arti superiori in coppia gemellare monozigotica discordante

1963 ◽  
Vol 12 (3) ◽  
pp. 228-237
Author(s):  
L. Gedda ◽  
G. Torrioli-Riggio

SUMMARYThe Authors describe a case of aplasia of the upper limbs in a discordant MZ twin pair. According to the individual and genealogical findings, and especially to the fact that these female MZ twins are discordant, as well as to the caryologic finding, the Authors conclude that the malformation is not genetically induced but possibly originated by blastophthoric factors during the first and second month of fetal life.

2017 ◽  
Vol 20 (4) ◽  
pp. 363-369
Author(s):  
Nancy L. Segal

The late neurologist and author, Oliver Sacks, published an insightful 1986 review of Marjorie Wallace's book, The Silent Twins, in the New York Times. Taking exception to his assertion about Sir Francis Galton, I wrote a letter to the Times’ editor. The letter was unpublished, but it brought a wonderful response from Sacks himself that is reproduced and examined. Next, brief reviews of twin research concerning the vanishing twin syndrome (VTS), discordant sex in a monozygotic (MZ) twin pair, and multiple pregnancy outcomes from assisted reproductive technology (ART) are presented. This section is followed by popular coverage of superfetated twins, smoking-discordant co-twins, twins in fashion, Yale University twin hockey players, and a visiting professor who was a conjoined twin.


2010 ◽  
Vol 13 (3) ◽  
pp. 223-230 ◽  
Author(s):  
Yun-Mi Song ◽  
Dong-Hun Lee ◽  
Mi Kyoung Lee ◽  
Kayoung Lee ◽  
Hee Jung Lee ◽  
...  

AbstractDetermining valid zygosity is a basic and important requirement in a twin study, because misdiagnosing zygosity leads to biased results. The Healthy Twin Study has collected data from adult like-sex twins and their families since 2005. In the study, a questionnaire to determine zygosity was developed comprising four questions; one concerning the degree of resemblance, and three concerning the degree of confusion by the resemblance. Among 2,761 individuals (624 twin pairs) of twin and their families, 406 pairs of twins (mean age 38.3, 63.5% women) with both questionnaire and genotype information were selected to examine the validity of the zygosity questionnaire using 16 short tandem repeat markers. We first determined individual zygosity including undetermined category, and then decided the zygosity of a twin pair using a decision tree. Sensitivity of questionnaire diagnosis was 98.8% for monozygotic (MZ) and 88.9% for dizygotic (DZ) twins, and positive predictive value was 97.2% for MZ and 95.0% for DZ. When we compared correctly and wrongly diagnosed twin pairs, misdiagnosed DZ twins (nine pairs) showed striking similarity in stature or obesity even exceeding that of true MZ twins. Our finding suggests that a parsimonious questionnaire method of diagnosing the zygosity will be useful, and adding physical or physiological measurements to a questionnaire of zygosity diagnosis will either confound the correct diagnosis or reduce the efficiency of the study compared with using questionnaire alone or with introducing genotyping.


2015 ◽  
Vol 81 (14) ◽  
pp. 4774-4781
Author(s):  
Min Zhang ◽  
Xiaomin Hang ◽  
Jing Tan ◽  
Hong Yang

ABSTRACTTo investigate the influences of host genotype and environment onBifidobacterium longumsubsp.longuminhabiting human intestines at the strain level, six pairs of twins, divided into two groups (children and adults), were recruited. Each group consisted of two monozygotic (MZ) twin pairs and one dizygotic (DZ) twin pair. Child twins had been living together from birth, while adult twins had been living separately for 5 to 10 years. A total of 345B. longumsubsp.longumisolates obtained from 60 fecal samples from these twins were analyzed by multilocus sequence typing (MLST), and 35 sequence types (STs) were finally acquired. Comparison of strains within and between the twin pairs showed that no strains with identical STs were observed between unrelated individuals or within adult DZ twin pairs. Eight STs were found to be monophyletic, existing within MZ twins and child DZ twins. The similarity of strain types within child cotwins was significantly higher than that within adult cotwins, which indicated that environment was one of the important determinants inB. longumsubsp.longumstrain types inhabiting human intestines. However, although these differences between MZ and DZ twins were observed, it is still difficult to reach an exact conclusion about the impact of host genotype. This is mainly because of the limited number of subjects tested in the present study and the lack of strain types tracing in the same twin pairs from birth until adulthood.


1983 ◽  
Vol 18 (3-4) ◽  
pp. 381-430 ◽  
Author(s):  
Carmel Shalev

The law's treatment of abortion has undergone a fundamental transformation in the present century which has been marked by a clear trend towards decriminalization of the matter vis-à-vis the abortionist and the woman. The increasing secularization of society, the advance of libertarian thinking in western democracies and the movement towards social equality for women has increasingly led to the view that the abortion decision is one which properly belongs to the private realm of the individual woman. This view has been reinforced by utilitarian arguments founded on acknowledgement of the fact that the criminal prohibition has always been evaded by a resort to illegal procedures with all the danger to the woman's health that this entails.Despite religious and moral objections based on the interest in protecting fetal life, the law has responded to pressures for the legitimization of abortion in varying degrees. In some countries abortion has been totally decriminalized and indeed made available on demand; in others decriminalization has been only partial and abortion allowed only upon a showing of cause defined by statute (abortion on cause) or only at certain stages of pregnancy.On the whole, the law has remained silent as to the status of the father in the abortion decision; in any event he was not subject to any criminal sanction.


1967 ◽  
Vol 16 (2) ◽  
pp. 172-177 ◽  
Author(s):  
U. Villani

SUMMARYThe Author reports the case of two MZ twins concordantly affected by a neoplasm of the testicle. The various etiopathogenetic theories of this form, the data reported in the literature and the genetic interpretation are discussed.


2011 ◽  
Vol 14 (2) ◽  
pp. 137-143 ◽  
Author(s):  
Yaniv Erlich

Twin studies have long provided a means to separate the contributions of genetic and environmental factors. A recent pioneering report by Baranzini et al. presented an analysis of the complete genomes and epigenomes of a monozygotic (MZ) twin pair discordant for multiple sclerosis. This failed to find any difference between the twins, raising doubts regarding the value of whole-genome twin studies for defining disease susceptibility alleles. However, the study was carried out with DNA extracted from blood. In many cases, the hematopoietic lineages of MZ twins are chimeric due to twin-to-twin exchange of hematopoietic stem cells during embryogenesis. We therefore wondered how chimerism might impact the ability to identify genetic differences. We inferred the blood chimerism rates and profiles of more than 30 discordant twin cases from a wide variety of medical conditions. We found that the genotype compositions of the twins were highly similar. We then benchmarked the performance of SNP callers to detect discordant variations using high-throughput sequencing data. Our analysis revealed that chimerism patterns, well within the range normally observed in MZ twins, greatly reduce the sensitivity of SNP calls. This raises questions regarding any conclusions of genomic homogeneity that might be drawn from studies of blood-derived twin DNA.


1970 ◽  
Vol 19 (4) ◽  
pp. 493-506 ◽  
Author(s):  
L. Gedda ◽  
G. Brenci

SummaryThe phenomenon of life, in its individual and collective expressions, develops through a sequence of times resulting from the interference of biological with physical time. While physical time is uniform, the biological one differs from one individual to the other, except for MZ twins.The problem of biological time has been studied in physiology and informational genetics from the viewpoint of its succession of single times, although irrespective of the individual variability in their duration. This variability has already been shown by the authors to be hereditary, its inheritance being directly connected with the hereditary unit.Biological time corresponds to the duration of degradation (“chronon”) of the energy of stability (“ergon”) possessed by the gene and, by extension, to the total chronon of the genotypes underlying a given structure or function. Ergon and chronon are correlated index values, thereby constituting a system (“E/C system”).The individual variability of biological time depends on the A-T/G-G ratio in the DNA molecule, on the different amount of genie redundancy and on the different possibilities of repair of corresponding genes. The variability of these or possibly other causal factors determines the stability with respect to the environment in which the information operates, and especially to mutagenic agents.The authors apply the E/C model to epidemiologic data concerning diabetes, lupus erythematosus, and peptic ulcer, and verify the consistency of the experimental data with the theoretical model.


2008 ◽  
Vol 11 (1) ◽  
pp. 84-92 ◽  
Author(s):  
Liselotte Sonnesen ◽  
Carsten Pallisgaard ◽  
Inger Kjær

AbstractPrevious studies have described the relationships between cervical column morphology and craniofacial morphology. The aims of the present study were to describe cervical column morphology in 38 pairs of adult monozygotic (MZ) twins, and compare craniofacial morphology in twins with fusions with craniofacial morphology in twins without fusion. Visual assessment of cervical column morphology and cephalometric measurements of craniofacial morphology were performed on profile radiographs. In the cervical column, fusion between corpora of the second and third vertebrae was registered as fusion. In the twin group, 8 twin pairs had fusion of the cervical column in both individuals within the pair (sub-group A), 25 pairs had no fusions (subgroup B), and in 5 pairs, cervical column morphology was different within the pair (subgroup C), as one twin had fusion and the other did not. Comparison of craniofacial profiles showed a tendency to increased jaw retrognathia, larger cranial base angle, and larger mandibular inclination in subgroup A than in subgroup B. The same tendency was observed within subgroup C between the individual twins with fusion compared with those without fusion. These results confirm that cervical fusions and craniofacial morphology may be interrelated in twins when analysed on profile radiographs. The study also documents that differences in cervical column morphology can occur in individuals within a pair of MZ twins. It illustrates that differences in craniofacial morphology between individuals within a pair of MZ twins can be associated with cervical fusion.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Botond Simon ◽  
Laura Lipták ◽  
Klaudia Lipták ◽  
Ádám Domonkos Tárnoki ◽  
Dávid László Tárnoki ◽  
...  

Abstract Background DNA base identification is a proper and high specificity method. However, identification could be challenged in a situation where there is no database or the DNA sequence is almost identical, as in the case of monozygotic (MZ) twins. The aim of this study was to introduce a novel forensic method for distinguishing between almost identical MZ twins by means of an intraoral scanner using the 3D digital pattern of the human palate. Methods The palatal area of 64 MZ twins and 33 same-sex dizygotic (DZ) twins (DZSS) and seven opposite-sex dizygotic twins (DZOS) were scanned three times with an intraoral scanner. From the scanned data, an STL file was created and exported into the GOM Inspect® inspection software. All scans within a twin pair were superimposed on each other. The average deviation between scans of the same subject (intra-subject deviation, ISD) and between scans of the two siblings within a twin pair (intra-twin deviation, ITD) was measured. One-sided tolerance interval covering 99% of the population with 99% confidence was calculated for the ISD (upper limit) and the ITD (lower limit). Results The mean ISD of the palatal scan was 35.3 μm ± 0.78 μm. The calculated upper tolerance limit was 95 μm. The mean ITD of MZ twins (406 μm ± 15 μm) was significantly (p < 0.001) higher than the ISD, and it was significantly lower than the ITD of DZSS twins (594 μm ± 53 μm, p < 0.01) and the ITD of DZOS twins (853 μm ± 202 μm, p < 0.05). Conclusion The reproducibility of palatal intraoral scans proved to be excellent. The morphology of the palate shows differences between members of MZ twins despite their almost identical DNA, indicating that this method could be useful in forensic odontology.


1970 ◽  
Vol 19 (1-2) ◽  
pp. 268-268 ◽  
Author(s):  
L. Gedda ◽  
L. Scullica ◽  
A. Accardi
Keyword(s):  

The Authors report a 54-year-old male MZ twin pair with two single-born relatives suffering from glaucoma.The twins are concordant as to glaucoma, but onset of the disease in the first-born occurred 20 years later than in the second-born. This high chronological difference is ascribed to the hardships the latter twin had suffered for three years in Africa.The meaning of anticipation is discussed in the light of modern views on the time dimensions of the unit of inheritance (chronon).


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