Solving the twin paradox-forensic strategies to identify the identical twins.

Identical twins are also called monozygotic twins which originate from the same zygote that possesses the same genetic make-up. To discriminate between identical monozygotic twins, short tandem repeats has not been found effective, therefore, various techniques, including next-generation sequencing (NGS), are applied. Monozygotic twins can be identified through germ line genomes, through speech using deep learning networks, and through epigenetic analysis. Fingerprint analysis has also been used to distinguish between identical twins, as human beings have unique fingerprints. Two distinct levels of fingerprint are used to distinguish between monozygotic twins based upon the differences in the minutiae points. Examination of the methylation pattern of the genome has an enormous potential to differentiate between identical twins, as the methylation of DNA occurs uniquely to each individual. This article offers an insight into the latest methods and techniques used for the differentiation between the identical twins.

Mirror, mirror? An evaluation of identical twin mirroring in tooth crown morphology.

It has been estimated that 25% of monozygotic ("identical") twin pairs exhibit reverse asymmetry (RA) or "mirroring" of minor anatomical features as a result of delayed zygote division. Here, we examine whether identical twin mirroring accounts for patterns of dental asymmetry in a sample of monozygotic and dizygotic ("fraternal") twins. We focus on crown morphology to approach the following question: is there an association between dental RA frequency and twin type suggestive of the presence of mirror image twins in our sample? Data were collected from 208 deciduous and 196 permanent dentitions of participants of the University of Adelaide Twin Study using Arizona State University Dental Anthropology System standards. RA frequencies were compared across morphological complexes (deciduous, permanent), twin types (monozygotic, dizygotic), and traits. Fisher's exact tests were performed to formally evaluate the association between twin type and dental RA. Across the entire dataset, RA rates failed to exceed 8% for any twin type. In monozygotic twins, deciduous mirroring totaled 5.3% of observed cases, while permanent mirroring totaled 7.8% of observed cases. We found no statistically significant association between RA and twin type for any morphological character (p-value range: 0.07-1.00). Our results suggest the timing of monozygotic twin division does not explain the structure of asymmetry for our morphology dataset and that published estimates of identical twin mirroring rates may be inflated or contingent upon phenotype. Instead, rates reported for this sample more closely align with the proposed etiology of this condition.

DNA identification of monozygotic twins.

This study details the differentiation of identical twins based on single mutational base differences. There were three pairs of male monozygotic (MZ) twins in this study. DNA samples from blood, a buccal swab or saliva from each individual were all initially genotyped using 22 autosomal STR and 27 Y-STR loci. Preliminary screening confirmed there were no differences in the STR data between each pair of MZ twins. Whole Genome Sequence (WGS) data were generated from DNA extracted from the three body fluids from each individual. Kinship coefficients with 0.4254, 0.4557 and 0.4543 from 3 twins were generated based on WGS data to further confirm that their relationship was that of MZ twins. The fastq data generated by the Illumina Hiseq 2000 between MZ twins were then treated as "normal" as opposed to "tumor" using commercially available software tools to identify mutational single base changes. Sanger DNA sequencing confirmed there were 1, 5 and 9 single base changes found in WGS data from each of the three MZ twin sets. There was individual variation in the mutational base changes when comparing data from the three body fluids. The methods used in this study to differentiate MZ twins based on WGS data can readily be performed in many operational forensic DNA laboratories using user friendly software.

The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome.

The prolactin receptor gene (PRLR) may contribute to polycystic ovarian syndrome (PCOS) since it plays important roles in physiological ovarian functions. PRLR-knockout mice have irregular cycles and subfertility and variants in or around the PRLR gene were associated in humans with female testosterone levels and recurrent miscarriage. We tested 40 variants in the PRLR gene in 212 Italian families phenotyped by type 2 diabetes (T2D) and PCOS and found two intronic PRLR-variants (rs13436213 and rs1604428) significantly linked to and/or associated with the risk of PCOS. This is the first study to report PRLR as a novel risk gene in PCOS. Functional studies are needed to confirm these results.

Monozygotic twins and cholesteatomas: nature or nuture?

PURPOSE: Cholesteatoma is a rare middle ear pathology. It can be classified into acquired and congenital forms. Although benign, cholesteatomas can cause significant morbidity including hearing loss, infection, facial palsy and thrombosis. Congenital cholesteatomas are incredibly rare and bilateral disease has not commonly been published in the literature. METHOD: We describe the case of female identical (monozygotic, monochorionic, diamniotic) twins who both developed congenital cholesteatomas. In this report, we review the aetiology, treatment, embryology and pathology of cholesteatoma. RESULTS: The patients have been followed up 15 years after their initial surgery with promising results - pure-tone audiometry and repeat scans have not illustrated any disease recurrence. CONCLUSION: This paper presents one of the only cases of female monozygotic twins presenting with unilateral and bilateral cholesteatomas.

Fetal growth restriction inhibits childhood growth despite catch-up in discordant identical twins: an observational cohort study.

OBJECTIVE: Research suggests that postnatal catch-up growth after fetal growth restriction (FGR) occurs frequently. Yet, postnatal growth in singletons may be influenced by multiple factors. Identical twins with discordant prenatal growth, termed selective FGR (sFGR), can be regarded as a natural experiment eliminating these sources of bias. DESIGN: Observational cohort study. METHODS: Monochorionic twins with sFGR born between 2002 and 2017 (aged 3-17 years) were eligible. Growth measurements (height, weight, head circumference, and body mass index) were performed at follow-up. Detailed growth curves documented by a systematic primary care system in the Netherlands were collected. Measurements were converted to standard deviation scores (SDSs). A mixed-effects model was used to assess within-pair SDS difference and individual height SDS relative to target height SDS. RESULTS: Forty-seven twin pairs (94 children) were included at a median age of 11 (interquartile range 8-13) years. At the last measurement, smaller twins at birth had a lower height SDS [-0.6 vs -0.3, P < .001, median difference 0.5 (95%CI 0.4-0.7)], lower weight SDS [-0.5 vs -0.1, P < .001, median difference 0.8 (95%CI 0.5-1.0)], and lower head circumference SDS [-0.5 vs 0.2, P < .001, median difference 0.8 (95%CI 0.6-0.9)] compared to larger twins. These differences persisted until the age of 17. Smaller twins showed rapid catch-up growth in the first 2 years and reached their target height range between 8 and 11 years. CONCLUSIONS: Identical twins with discordant prenatal growth maintain a modest but significant difference in height, weight, and head circumference, indicating a persistent, inhibitory effect of an adverse intrauterine environment on childhood growth.

Effects of smoking on genome-wide DNA methylation profiles: A study of discordant and concordant monozygotic twin pairs.

Background: Smoking-associated DNA methylation levels identified through epigenome-wide association studies (EWASs) are generally ascribed to smoking-reactive mechanisms, but the contribution of a shared genetic predisposition to smoking and DNA methylation levels is typically not accounted for. Methods: We exploited a strong within-family design, that is, the discordant monozygotic twin design, to study reactiveness of DNA methylation in blood cells to smoking and reversibility of methylation patterns upon quitting smoking. Illumina HumanMethylation450 BeadChip data were available for 769 monozygotic twin pairs (mean age = 36 years, range = 18-78, 70% female), including pairs discordant or concordant for current or former smoking. Results: In pairs discordant for current smoking, 13 differentially methylated CpGs were found between current smoking twins and their genetically identical co-twin who never smoked. Top sites include multiple CpGs in CACNA1D and GNG12, which encode subunits of a calcium voltage-gated channel and G protein, respectively. These proteins interact with the nicotinic acetylcholine receptor, suggesting that methylation levels at these CpGs might be reactive to nicotine exposure. All 13 CpGs have been previously associated with smoking in unrelated individuals and data from monozygotic pairs discordant for former smoking indicated that methylation patterns are to a large extent reversible upon smoking cessation. We further showed that differences in smoking level exposure for monozygotic twins who are both current smokers but differ in the number of cigarettes they smoke are reflected in their DNA methylation profiles. Conclusions: In conclusion, by analysing data from monozygotic twins, we robustly demonstrate that DNA methylation level in human blood cells is reactive to cigarette smoking. Funding: We acknowledge funding from the National Institute on Drug Abuse grant DA049867, the Netherlands Organization for Scientific Research (NWO): Biobanking and Biomolecular Research Infrastructure (BBMRI-NL, NWO 184.033.111) and the BBRMI-NL-financed BIOS Consortium (NWO 184.021.007), NWO Large Scale infrastructures X-Omics (184.034.019), Genotype/phenotype database for behaviour genetic and genetic epidemiological studies (ZonMw Middelgroot 911-09-032); Netherlands Twin Registry Repository: researching the interplay between genome and environment (NWO-Groot 480-15-001/674); the Avera Institute, Sioux Falls (USA), and the National Institutes of Health (NIH R01 HD042157-01A1, MH081802, Grand Opportunity grants 1RC2 MH089951 and 1RC2 MH089995); epigenetic data were generated at the Human Genomics Facility (HuGe-F) at ErasmusMC Rotterdam. Cotinine assaying was sponsored by the Neuroscience Campus Amsterdam. DIB acknowledges the Royal Netherlands Academy of Science Professor Award (PAH/6635).

The genetic information of people who smoke present distinctive characteristics. In particular, previous research has revealed differences in patterns of DNA methylation, a type of chemical modification that helps cells switch certain genes on or off. However, most of these studies could not establish for sure whether these changes were caused by smoking, predisposed individuals to smoke, or were driven by underlying genetic variation in the DNA sequence itself. To investigate this question, van Dongen et al. examined DNA methylation data from the blood cells of over 700 pairs of identical twins. These individuals share the exact same genetic information, making it possible to better evaluate the impact of lifestyle on DNA modifications. The analyses identified differences in methylation at 13 DNA locations in pairs of twins where one was a current smoker and their sibling had never smoked. Two of the genes code for proteins involved in the response to nicotine, the primary addictive chemical in cigarette smoke. The differences were smaller if one of the twins had stopped smoking, suggesting that quitting can help to reverse some of these changes. These findings confirm that DNA methylation in blood cells is influenced by cigarette smoke, which could help to better understand smoking-associated diseases. They also demonstrate how useful identical twins studies can be to identify methylation changes that are markers of lifestyle.

Morphology and Hemodynamics of Cerebral Arteries and Aneurysms in a Rare Pair of Monozygotic Twins.

In this preliminary study, the underlying pathophysiology mechanisms of cerebral aneurysms (CAs) in monozygotic twins (MTs) were investigated via a rare pair of MTs (twin A and twin B) involving four reconstructed arterial models using preclinical information. First, dimensions and configurated outlines of three-perspective geometries were compared. Adopting an in-vitro validated numerical CA model, hemodynamic characteristics were investigated in the MTs, respectively. Despite expected genetic similarities, morphological comparisons show that configurations of cerebral arteries exhibit significant differences between the twins. The ICA size of twin A is larger than that in twin B (2.23~25.86%), varying with specific locations, attributing to variations during embryological developments and environmental influences. Numerical modeling indicates the MTs have some hemodynamic similarities such as pressure distributions (~13,400 Pa) and their oscillatory shear index (OSI) (0~0.49), but present significant differences in local regions. Specifically, the difference in blood flow rate in the MTs is from 16% to 221%, varying with specifically compared arteries. The maximum time-averaged wall shear stress (53.6 Pa vs. 37.8 Pa) and different local OSI distributions were also observed between the MTs. The findings revealed that morphological variations in MTs could be generated by embryological and environmental factors, further influencing hemodynamic characteristics on CA pathophysiology.

Genetically identical twin-pair difference models support the amyloid cascade hypothesis.

The amyloid cascade hypothesis has strongly impacted the Alzheimer's disease research agenda and clinical trial designs over the past decades, but precisely how amyloid-ß pathology initiates the aggregation of neocortical tau remains unclear. We cannot exclude the possibility of a shared upstream process driving both amyloid-ß and tau in an independent manner instead of there being a causal relationship between amyloid-ß and tau. Here, we tested the premise that if a causal relationship exists, then exposure should be associated with outcome both at the individual level as well as within identical twin-pairs, who are strongly matched on genetic, demographic and shared environmental background. Specifically, we tested associations between longitudinal amyloid-ß PET and cross-sectional tau PET, neurodegeneration and cognitive decline using genetically identical twin-pair difference models, which provide the unique opportunity of ruling out genetic and shared environmental effects as potential confounders in an association. We included 78 cognitively unimpaired identical twins with [18F]flutemetamol (amyloid-ß)-PET, [18F]flortaucipir (tau)-PET, MRI (hippocampal volume) and cognitive data (composite memory). Associations between each modality were tested at the individual level using generalized estimating equation models, and within identical twin-pairs using within-pair difference models. Mediation analyses were performed to test for directionality in the associations as suggested by the amyloid cascade hypothesis. At the individual level, we observed moderate-to-strong associations between amyloid-ß, tau, neurodegeneration and cognition. The within-pair difference models replicated results observed at the individual level with comparably strong effect sizes. Within-pair differences in amyloid-ß were strongly associated with within-pair differences in tau (ß = 0.68, P < 0.001), and moderately associated with within-pair differences in hippocampal volume (ß = -0.37, P = 0.03) and memory functioning (ß = -0.57, P < 0.001). Within-pair differences in tau were moderately associated with within-pair differences in hippocampal volume (ß = -0.53, P < 0.001) and strongly associated with within-pair differences in memory functioning (ß = -0.68, P < 0.001). Mediation analyses showed that of the total twin-difference effect of amyloid-ß on memory functioning, the proportion mediated through pathways including tau and hippocampal volume was 69.9%, which was largely attributable to the pathway leading from amyloid-ß to tau to memory functioning (proportion mediated, 51.6%). Our results indicate that associations between amyloid-ß, tau, neurodegeneration and cognition are unbiased by (genetic) confounding. Furthermore, effects of amyloid-ß on neurodegeneration and cognitive decline were fully mediated by tau. These novel findings in this unique sample of identical twins are compatible with the amyloid cascade hypothesis and thereby provide important new knowledge for clinical trial designs.

Hypertrophic cardiomyopathy in identical twins: a case series.

Background: Hypertrophic cardiomyopathy in identical twins is rare. Cases of hypertrophic cardiomyopathy with homogenous and heterogeneous phenotypes have been described in the literature. Case summary: We report a pair of monozygotic twins (Twin A and Twin B) with identical morphological expression of hypertrophic cardiomyopathy. On initial evaluation, both twins had resting left ventricular outflow tract obstruction, Grade II diastolic dysfunction, and New York Heart Association (NYHA) Class II symptoms, but they had a different clinical course afterward. Twin A progressed from NYHA Class II to Class III with a high left ventricular outflow tract pressure gradient that was unresponsive to medical treatment and required alcohol septal ablation. Twin B responded very well to medical treatment. Both patients had no risk factors for sudden cardiac death, and neither required an implantable cardioverter defibrillator. Discussion: The morphology of hypertrophic cardiomyopathy has a strong genetic basis, but epigenetic factors may affect disease expression.

Micro traces of great importance - A case study of microtraces analysis to identify the perpetrator of a car accident involving identical twins.

A tragic car accident took place in one of the villages of southern Poland. Three teenagers were traveling by car - a woman and two men (identical twins). None of the participants had their seat belts fastened, and the men were under the influence of alcohol and drugs. As a result of losing control of the vehicle, the woman died instantly, but she was not the driver. The driver was one of the men, but neither pleaded guilty. The police and the prosecutor's office had to clearly identify the perpetrator and prove his guilt, which was possible based on the analysis of the collected microtraces. The article describes the collected evidence and presents the results of microtraces analysis, on the basis of which the perpetrator of the accident was determined and convicted. In this particular case it was difficult because the suspects were identical twins and commonly used forensic examinations (such as forensic genetics, anthropology, dactyloscopy, traceology, osmology) did not bring a satisfactory result. Only the analysis of microtraces turned out to be groundbreaking.

Different Phenotypes in Monozygotic Twins, Carriers of the Same Pathogenic Variant for Hypertrophic Cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a monogenic disease with autosomal dominant inheritance. Genotype−phenotype relationships are complex, with variable penetrance even within the same family. The involvement of other modulating genetic and environmental factors is unknown. We aimed to analyze the HCM in monozygotic twins, carriers of the same founder pathogenic variant MYBPC3 p.G263*. The relationship was verified using the PowerPlex 16 HS System kit. Phenotypic differences and environmental differences (overloading conditions, coexistence and location, lifestyle, sport, and intensity) were analyzed. Three pairs of twins genetically identical for all markers and carriers of MYBPC3 G263* were identified. No environmental differences were identified. One of the 89-year-old twins had symptomatic severe obstructive HCM that required septal ablation, while her twin has remained asymptomatic with mild phenotype >80 years. A 49-year-old twin had a severe phenotype of obstructive HCM and pending myectomy, while his twin had a mild asymptomatic phenotype. In the last pair of twins, one presented a much larger left ventricular hypertrophy than his identical twin. In summary, we present three pairs of HCM twin patients sharing not only the genetic cause of the inherited disease but the entire genetic background. Despite identical genetic information and the absence of other known clinical, environmental, or lifestyle differences, the severity of the HCM phenotype is strikingly different. These unexplained differences should prompt the study of other unknown modulating factors, either epigenetic or environmental.

Clinical Discordance in Monozygotic Twins With Autism Spectrum Disorder.

There is a significant concordance of autism spectrum disorder in monozygotic (MZ) twins, where behavioral manifestations are heavily influenced by genetic factors. We describe a case of male monozygotic twins with autism spectrum disorder (ASD), raised in the same household, that present with different clinical manifestations. One of the twins presents with intermittent frank syncopal episodes, sinus bradycardia, and elevated alkaline phosphatase (ALP), while the other has symptoms of attention-deficit/hyperactivity disorder (ADHD), normal cardiological findings, and normal ALP level. The clinical discordance in this pair of monozygotic twins may be due to any of the following: 1) neuroanatomic cerebellar differences, 2) variable expression of genotype, and 3) inconsistent neurotransmitter regulation.

Multiparametric Analysis of Speaking Fundamental Frequency in Genetically Related Speakers Using Different Speech Materials: Some Forensic Implications.

OBJECTIVE: To assess the speaker-discriminatory potential of a set of fundamental frequency estimates in intraidentical twin pair comparisons and cross-pair comparisons (i.e., among all speakers). PARTICIPANTS: A total of 20 Brazilian Portuguese speakers of the same dialect, namely 10 male identical twin pairs aged between 19 and 35, were recruited. METHOD: the participants were recorded directly through professional microphones while taking part in a spontaneous dialogue over mobile phones. Acoustic measurements were performed in connected speech samples, and in lengthened vowels, at least 160 ms long produced during spontaneous speech. RESULTS: f0 baseline, central tendency, and extreme values were found mostly discriminatory in intra-twin pair and cross-pair comparisons. These were also the estimates displaying the largest effect sizes. Overall, only three identical twins were found statistically different regarding their f0 patterns in connected speech, but not for lengthened vowel-based f0 metrics. Estimates of f0 variation and modulation were found the least discriminatory across speakers, which may signal the control of speaking style and dialect on dynamic patterns of f0. Concerning system performance, the base value of f0 (f0 baseline) was found the most reliable metric, displaying the lowest equal error rate (EER). CONCLUSIONS: the outcomes suggest that, although identical twins were very closely related regarding their f0 patterns, some pairs could still be differentiated acoustically, only in connected speech. Such findings reinforce the relevance of analyzing long-term f0 metrics for speaker comparison purposes, with particular consideration to f0 baseline. Furthermore, f0 differences across subjects were suggested as more expressive in connected speech than in lengthened vowels.

Correlation Analysis of Dominant Eye and Refractive Error Between Monozygotic Twins.

OBJECTIVE: This study aims to investigate the correlation of dominant eye and refractive error between monozygotic twins. METHODS: The data of dominant eye and refractive error of 13 pairs of monozygotic twins who were treated at the Optometry Clinic were collected. The paired chi-square test and Kappa consistency test were used to analyze the data of dominant eye between monozygotic twins, while the paired t test and Pearson correlation analysis were adopted to analyze the refractive error data. SPSS version 22.0 software was used to analyze the above statistics. RESULTS: In the Kappa consistency test of dominant eye between monozygotic twins, Kappa value = 0.451, p = 0.052, p>0.05, and in the paired chi-square test, p = 0.250. In the spherical equivalent paired t test for the right eye of monozygotic twins, t = 1.491 and p = 0.162, while in the spherical equivalent paired t test for the left eye, t = 0.753 and p = 0.466. In the spherical equivalent correlation analysis of monozygotic twins, for the spherical equivalent refraction of the right eye, the Pearson correlation results were r = 0.901 and p = 0.00, and for the spherical equivalent refraction of the left eye, the Pearson correlation results were r = 0.971 and p = 0.00. CONCLUSION: The difference in the chi-square test of dominant eye is not statistically significant between monozygotic twins, but dominant eye and refractive error are correlated to some extent. It is suggested that heredity may be the main determinant of the dominant eye. There is no difference in refractive error between identical twins which are highly correlated, however.

Ten-year outcomes after initial management with laser photocoagulation versus intravitreal bevacizumab injection in a pair of identical twins with aggressive posterior retinopathy of prematurity.

PURPOSE: To evaluate the long-term clinical outcomes after initial management with retinal laser photocoagulation (RLP) versus intravitreal bevacizumab (IVB) injection in identical twins with zone Ⅰ aggressive posterior retinopathy of prematurity (AP-ROP). OBSERVATIONS: Identical female twins were born at a gestational age of 28 2/7 weeks, weighing 970 g and 1020 g. The twins were diagnosed with bilateral AP-ROP, referred to a different hospital due to unavilability of a neonatal intensive care unitand received different initial treatments. At a postmenstrual age of 32 6/7 weeks, the first-born infant underwent bilateral IVB (0.313 mg) injection, whereas the second-born infant received bilateral laser photocoagulation on the same day. To treat recurrence, the first-born infant underwent additional bilateral IVB reinjection at 10 weeks post-treatment, while the second-born infant underwent combined bilateral laser photocoagulation and IVB injection at 2 weeks post-treatment.After 10 years, the first-born infant's best corrected visual acuities (BCVAs) of the right and left eyes were 20/20 and 20/50, respectively. Both eyes showed complete retinal vascularization of the peripheral retina and an anatomically normal foveal contour on swept-source optical coherence tomography (SS-OCT). However, the second-born infant's BCVAs of the right and left eyes were 20/50 and 1-m finger-counting, respectively. Both eyes of the second-born infant showed panretinal chorioretinal atrophy due to laser scars, a flattened foveal contour with thin epiretinal membrane in the right eye, and loss of foveal curvature in the left eye on SS-OCT images, 10 years after the initial treatment. Moreover, severe myopia and astigmatism were observed in both eyes of the second-born infant, compared with those of the first-born infant during follow-up. CONCLUSION AND IMPORTANCE: These cases involving identical twins indicated that the effect of initial IVB injection for AP-ROP was superior to that of initial RLP in terms of functional and anatomical outcomes during a 10-year follow-up.

Osteosarcoma in One of Identical Twins: Three Cases Report and a Literature Review.

BACKGROUND: Osteosarcoma (OS) is the most common primary malignant bone tumor occurring mainly in children and young adults. OS is usually seen in sporadic cases, and it is an extremely rare phenomenon in blood relatives, particularly among identical twins. CASE PRESENTATION: The present study reports three cases of OS occurring in only one of identical twins. The first case is a high-grade OS in the left proximal tibia of a 16-year-old girl, treated with neo-adjuvant chemotherapy, en bloc resection, and reconstruction with a modular knee tumor prosthesis. The second one is a high-grade OS of the left proximal tibia of a 6-year-old girl. The patient was treated with neo-adjuvant chemotherapy, en bloc resection, and reconstruction with inactived autograft. The third one is a conventional OS of the right proximal tibia of a 20-year-old woman. She was treated with neo-adjuvant chemotherapy, en bloc resection, and reconstruction with a custom-made prosthesis. CONCLUSIONS: The occurrence of OS in one of identical twins is a relatively rare event but may present the best opportunity to understand the genetic mechanisms underlying the tumorigenesis and progression of this disease in humans. A longer follow-up period and regular imaging evaluation are needed to confirm whether the identical twin of these patients will suffer OS in the future.

Drawing development of identical and non-identical twins: A case study of triplets.

Differences in drawing development are conditioned by genetics, environment and individuality of children. Therefore, it is exciting to observe the drawing development in children, who are raised in the same environment and have a similar genetic basis, that is in twins, triplets, and so forth. In the study, we were interested in the similarities and differences in the drawing development of the triplets, two of which were identical twins (B1 and B2) and one was non-identical (A), and whether the characteristics of the drawing appear more congruently between B1 and B2 than with A. We proposed two hypotheses: H1: There are more similarities in drawings between identical twins (B1 vs B2) than between identical and non-identical one (A vs B1 and A vs B2); H2: The differences between non-identical and identical triplets are less pronounced at the beginning of the drawing development (in doodle phase) and become more distinctive in later development, in drawing of figure and space. We analysed 123 drawings that the triplets (41 drawings of each triplet) drew from 1 to 12 years of age at the same time and on the same topic. The results of our research have shown that both hypotheses can be confirmed. On the general level, there are more similarities in drawing between identical twins compared to non-identical ones; and the differences and similarities become more distinctive throughout the development, especially in figure drawing and in the depiction of space.

Discordant clinical features of identical hypertrophic cardiomyopathy twins.

Hypertrophic cardiomyopathy (HCM) is a disease of heart muscle, which affects ∼1 in 500 individuals and is characterized by increased left ventricular wall thickness. While HCM is caused by pathogenic variants in any one of eight sarcomere protein genes, clinical expression varies considerably, even among patients with the same pathogenic variant. To determine whether background genetic variation or environmental factors drive these differences, we studied disease progression in 11 pairs of monozygotic HCM twins. The twin pairs were followed for 5 to 14 y, and left ventricular wall thickness, left atrial diameter, and left ventricular ejection fraction were collected from echocardiograms at various time points. All nine twin pairs with sarcomere protein gene variants and two with unknown disease etiologies had discordant morphologic features of the heart, demonstrating the influence of nonhereditable factors on clinical expression of HCM. Whole genome sequencing analysis of the six monozygotic twins with discordant HCM phenotypes did not reveal notable somatic genetic variants that might explain their clinical differences. Discordant cardiac morphology of identical twins highlights a significant role for epigenetics and environment in HCM disease progression.

Identical twins affected by congenital cytomegalovirus infections showed different audio-vestibular profiles.

This study explored whether there were long-term hearing and vestibular outcome differences between five pairs of identical twins who had been infected with the congenital cytomegalovirus (CMV) infection before birth. Data were collected from the medical records at the Audiological Clinic, Karolinska University Hospital, Stockholm. The congenital CMV infection resulted in high variations in vestibular and hearing function within, and between, the genetically identical twin pairs. Clinicians need to be aware that treatment and interventions may need to differ substantially when identical twins have hearing issues related to the congenital CMV infection.