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Trisomy 8 mosaicism syndrome. Report of monozygotic twins.

Monozygotic twins were born with the phenotypical appearance of the trisomy 8 syndrome. The first twin, a stillborn, had autopsy findings suggestive of trisomy 8 syndrome. Cultured lymphocytes and skin fibroblasts of the second, liveborn twin, showed trisomy 8. While the lymphocyte culture showed 46/47, +8 mosaicism, with normal cells predominating, skin fibroblasts yielded only cells with trisomy 8. Bone marrow preparation showed only normal cells, 46,XY. Repeat lymphocyte culture at age 14 months, showed a reduced number of trisomy 8 cells. We would like to emphasize the importance of cytogenetic studies in early infancy, using both peripheral lymphocyte and skin fibroblast cultures, to increase the chance of detecting chromosomal abnormalities.

Abnormalities, Multiple

Contraposed curve patterns in monozygotic twins.

Monozygotic twins with Marfan's disease presented with opposing lumbar curve patterns. Differences in degrees of curvature correspond to the levels of severity of other clinical manifestations of the disease.

Adolescent

Discordance for ankylosing spondylitis in monozygotic twins.

Three monozygotic twin pairs, each over the age of 45 years, with ankylosing spondylitis are described. In two pairs there is discordance for this disease and in the third pair there is a marked difference in the severity of this disease. These findings provide evidence that environmental factors are necessary not only for the initial development of ankylosing spondylitis, but possibly also for determining its future severity.

Diseases in Twins

Discordant distribution of IgM and IgG antibodies to DNA and RNA in monozygotic twins with systemic lupus erythematosus.

Sera from six sets of twins (five monozygotic and one dyzygotic) in whom one or both has systemic lupus erythematosus (SLE) were evaluated for antibodies to DNA and RNA. Sera from three monozygotic twin sets were further studied to determine the distribution of 19S and 7S antibodies to DNA and RNA. The presence of significant binding of polyriboadenylic acid and of native DNA correlated with the presence of clinical SLE in this study. Sucrose density gradient fractionation studies of the sera revealed that the clinically normal twins had some binding of Poly A and DNA limited to the 19S region, whereas the twins with SLE generally had significant levels of 19S and 7S antibodies to DNA and/or Poly A. On the other hand, concordance for presence or absence of antibodies to doublestranded RNA was demonstrated within each twin set irrespective of concordance or discordance for clinical SLE. These results suggest that genetic factors may be important in determining which nucleic acids antigens become immunogenic, but genetic factors alone do not determine the immunoglobulin class distribution of antibodies to nucleic acids.

Antibodies, Antinuclear

[Myxoma of the right ventricle in monozygotic twins: surgical ablation].

Monozygotic twins aged 23 underwent surgery, at an interval of 4 months from each other, for a myxomatous tumour of the right ventricle which had been completely asymptomatic until then. The authors present the clinical, electrocardiographic and angiographic findings, together with details of the operation and of the histological findings. They recall how rare a site this is, and summarise some of the observations which have been made on familial myxomas.

Adult

[Heredity of twinning in families of monozygotic twins (author's transl)].

Whereas the existence of some genetic factor underlying the phenomenon of twinning is almost generally accepted with respect to DZ twins, no such agreement exists with respect to MZ twins. The possible existence of genetic factors underlying MZ twinning has been verified through an analysis of segregation in the sibships of MZ twins and in those of their parents, carried out on a sample of 57 MZ twin pairs (30 M and 27 F). Haldane's a priori method has been applied, considering the sample as obtained through a complete and through an incomplete ascertainment. The results may lead to cautiously confirm the hypothesis of some genetic conditioning of MZ twinning.

Alleles

The occurrence of gonadal dysgenesis in association with monozygotic twinning.

A case is presented of a monozygotic twin pair, discordant for phenotypic sex, in which the female member showed gonadal dysgenesis and chromosomal mosaicism. Review of the pertinent literature reveals that in monozygotic twin pairs, phenotypic and karyotypic concordance is the usual occurrence for Down's and Klinefelter's syndromes, whereas discordance often accompanies gonadal dysgenesis. Mosaicism is a frequent concomitant of gonadal dysgenesis in monozygotic twins. Our case strengthens the probability of a real association between mosaicism and monozygotic twinning in gonadal dysgenesis.

Adolescent

Squint in monozygotic twins.

In a group of monozygotic twins, in which at least one of the pair squinted, strabismus was observed in both twins in only about half of the cases. Within the concordant group there was variation in the way in which the anomaly became manifest.

Adolescent

Early infantile autism in monozygotic twins.

A pair of male monozygotic twins concordant for autism is reported. During pregnancy the mother suffered from severe toxemia, and delivery occurred 2 months before term. Although there may have been a genetic influence, it appears that gestational damage was the main etiological factor for the autism in both children.

Autistic Disorder

[Parkinson's disease and anosmia in monozygotic twin sisters (author's transl)].

Monozygotic twin sisters developed Parkinson's disease and anosmia at the age of 39. The disease was kept under control and regressed with L. Dopa. Two families with the same association had been previously reported. An anomaly of the metabolism of dopamine, genetically determined, is probably responsible for these disorders.

Adult

Monozygotic twins discordant for Duane's retraction syndrome.

Monozygotic twin boys discordant for the occurence of Duane's retraction syndrome are presented. This appears to be the first report of such discordance between monozygotic twins. The theoretic problems which this situation poses for the explanation of the acquisition of Duane's retraction syndrome is discussed.

Adolescent

Congenital cardiac abnormalities in monozygotic twins. Report and review of the literature.

A pair of monozygotic twin girls is reported with concordance for 3 congenital cardiac abnormalities: (1) secundum atrial septal defect, (2) aneurysm of the membraneous ventricular septum, and (3) electrocardiographic frontal plane left axis deviation. A review of the published materials shows a 9.5 per cent incidence of concordance for congenital heart disease among monozygotic twins. In those in whom a precise cardiological diagnosis was made, 15/16 pairs (95%) were concordant for a specific defect, 2 had an additional defect, and only 1 pair had completely dissimilar defects. Concordance for congenital heart disease in monozygotic twins is uncommon, but when it occurs the defects will most often be identical.

Child

Hirschsprung's disease discordant in monozygotic twins: a study of possible environmental factors in the production of colonic aganglionosis.

The occurrence of Hirschsprung's disease, with histologically verified colonic aganglionosis, in only 1 of 2 prematurely born and presumed identical (monozygotic) twins is reported. The occurrence of monozygotic twinning was supported by the observed sharing of a single and common placenta and by ABO and HLA identity of peripheral blood erythrocytes and leukocytes. The affected twin was of a slightly lower birth weight and experienced early respiratory distress, necrotizing enterocolotis, and more prolonged umbilical artery catheterization (no encountered in the unaffected twin). This, to the authors' knowledge, is the first reported occurrence of Hirschsprung's disease discordant in monozygotic twins. The literature relating to genetic and environmental factors in clinical and experimental colonic aganglionosis is reviewed and speculation is presented regarding the occurrence of colonic aganglionosis discordant in monozygotic twins as reported here.

ABO Blood-Group System

Motor development of autistic monozygotic twins: a case study.

A pair of autistic monozygotic twins were assessed on relevant portions of the Geddes Psychomotor Inventory. Over-all motor development of the 3-yr., 6-mo. old twins was similar and considered a partial consequence of the same genotype and comparable environmental experiences from birth. The twins exhibited poor or unsuccessful performance on tasks requiring abilities in language, communication, and appropriate relationships to objects; superior performance on specific fine manual motor skills, walking balance board, and climbing; at-age performance on tasks which were considered measures of patterned gross movement, balance, postural maintenance, and spatial orientation; and few typical autistic motor characteristics.

Autistic Disorder

[Benign recurrent cholestasis in monozygotic twin girls (author's transl)].

The cases of Monozygotic twin girls suffering from benign recurrent familiar intrahepatic cholestasis are reported. So far both children had six icteric episodes due to this disease. These episodes occurred during times of severe emotional stress therefore, it may be assumed that a latent enzyme deficiency in the metabolism of bile acids, which is determined genetically, could be influenced by psychosomatic mechanisms. During the acute phases phenobarbital and cholestyramine succesfully reduced serum bilirubin levels.

Child

Monozygotic twins discordant for systemic lupus erythematosus.

A pair of monozygotic twins discordant for systemic lupus erythematosus(SLE) were studied and no differences noted in their immune respose to tetanus toxoid, keyhole lympet hemocyanin, DNCB, delayed sensitivity, or antibody titers to viruses. Both were noted to have biologically false positive serology at an early age, but only one twon developed SLE. The clinically unaffected twin underwent castration at an early age, suggesting that ovarian hormones may play an important role in the development of SLE.

Adult