Case Of Monozygotic Twins Research Articles

Tétralogie de Fallot chez un couple de jumeaux monozygotes

The causative mechanisms of congenital heart defects remain unclear and little is known about the respective implication of chance, genetics and environment, though recent findings in molecular biology may provide further insight into understanding the pathophysiologic basis of congenital heart diseases. Case report. – We report the exceptional but significant case of monozygotic twins both affected by tetralogy of Fallot, for whom prenatal diagnosis ruled out 22q11 microdeletion. Conclusion. – We discuss how far this observation is consistent with the latest hypothesis, which emphasizes the leading role of genetic factors. Several genes indeed, either separately or in combination, could be responsible for those defects, even if other influences may still come into play.

The potential association between blastocyst transfer and monozygotic twinning

The potential association between blastocyst transfer and monozygotic twinning

Monozygotic twinning and IVF/ICSI treatment: a report of 11 cases and review of literature

Monozygotic twinning is a relatively rare event in in-vivo conception, being estimated to occur in 0.42% of all births. The underlying mechanism for monozygotic twin formation is the division of the embryo early in its development. Separation of cells may theoretically occur before or after inner cell mass formation. In this analysis we report 11 cases of monozygotic twins resulting from IVF or intracytoplasmic sperm injection (ICSI) treatment cycles performed between 1991 and 1998 at St James's University Hospital, Leeds, and Bourn Hall Clinic, Cambridge, UK. Six cases (55%) followed treatment with ICSI and seven cases (64%) were in women aged > or = 35 years. This article also reviews the scientific literature discussing information pertaining to frequency, aetiology and potential complications of the monozygotic twinning phenomenon. We conclude that patients at risk of monozygotic twinning are those aged >35 years of age and those who had artificial opening in the zona pellucida by application of micromanipulation techniques. Women undergoing assisted conception treatment, particularly those with these two risk factors, must be informed of the low but definite risk of monozygotic twinning when counselled regarding the number of embryos to be transferred and chances of multiple births.

Different phenotypes of multiple endocrine neoplasia type 1 (MEN1) in monozygotic twins found in a Japanese MEN1 family with MEN1 gene mutation.

We report monozygotic twins who showed different MEN1 phenotypes. The proband (28 y.o., female) had both primary hyperparathyroidism (PHP) and insulinoma, and genetic analysis revealed a point mutation (569del1, exon 3) of the MEN1 gene. This mutation causes a frameshift and produces a stop codon at codon 184. Restriction digestion (HinfI) analysis confirmed the same mutation of the MEN1 gene in six of the affected members including her two sisters, the monozygotic twins, and no such mutation in two unaffected members. In two generations of this family, eight of eleven family members had PHP and four of them were found to have other MEN1-related lesions. Both of the monozygotic twins had PHP. Interestingly, one had pancreatic tumor but the other had no evidence of it. Pituitary MRI showed no pituitary lesion in either of them. This is the first Japanese case of monozygotic twins with different MEN1 phenotypes.

Monozygotic twins discordant for single umbilical artery and congenital heart disease

We report a case of monozygotic twins. One twin had a single umbilical artery and the other co-twin had congenital heart disease. This case and a review of the literature suggest that local environmental factors are important in the pathogenesis of these malformations although genetic factors cannot be excluded.

Mirror imaging cleft lip in monozygotic twins

Although genetic and environmental factors have been found to effect the occurrence of cleft lip, many aspects of its etiology are still unclear. The value of the studies on monozygotic twins has been accepted by many authors. Especially the concordant anomalies gain importance in the monozygotic twins who are influenced by the same genetic and environmental factors. Here we present a case of monozygotic twins with cleft lip deformities showing “mirror image” concordance.

Agenesis of the left hemidiaphragm in only one member of monozygotic twins

This is the second reported case of monozygotic twins in which one baby was normal, but one had agenesis of the left hemidiaphragm (AHD). Associated anomalies were a patent ductus arteriosus and atrial septal defect. The patient died due to persistent fetal circulation with a pulmonary hypertensive crisis. This report examines another rare example that contradicts a genetic etiology of AHD. Autopsy findings are described, along with a review of the literature.

A mirror image of the first and second branchial arch syndrome associated with cleft lip and palate in monozygotic twins

A rare case of monozygotic twins revealing a mirror image of the first and second branchial arch syndrome with accessory ear and hemifacial microsomia, associated with unilateral cleft lip and palate, is presented. Although the concordance and/or discordance rate of monozygotic or dizygotic twins with cleft lip and palate is well reported, that of twinning of the first and second branchial arch syndrome has been very rarely described. First and second branchial arch syndrome occurs sporadically but cleft lip and palate are strongly related to the influence of environmental factors with a considerable hereditary tendency. The study of twinning of congenital anomalies is important in the investigation of the pathogenesis of genetic and environmental effects. The twins were diagnosed as monozygotic with almost complete certainty by ABO blood typing, HLA typing, finger prints, and DNA typing. Concordance was noticed, which suggests a hereditary tendency. Since concordance in these monozygotic twins was exhibited by a precise mirror image of first and second branchial arch syndrome, spinal scoliosis and cleft lip and palate, it is possible that an environmental factor induced these complex anomalies.

A Case of Monozygotic Twins with Common Acute Lymphoblastic Leukemia, Presenting Bone Marrow Relapse in One of the Twins

A Case of Monozygotic Twins with Common Acute Lymphoblastic Leukemia, Presenting Bone Marrow Relapse in One of the Twins

口しん口がい裂を伴った一卵性双生児の症例

口しん口がい裂を伴った一卵性双生児の症例

Monozygotic twins from in vitro fertilization

A case of identical twins following in vitro fertilization and embryo transfer ( IVF -ET) is described. Two embryos were transferred, but it is apparent that only one implanted and subsequently divided in the early implantation phase to produce identical male twins within a monochorionic , diamniotic placental and membrane configuration. Additional marker studies provide an overall probability of less than 0.001 for dizygosity . There is unlikely to be any relationship between this event and the technique of IVF -ET.

Monozygotic Twins Discordant for Cutaneous Mastocytosis

Cutaneous mastocytosis (CM) may be transmitted as an autosomal dominant trait. 1 In 1938, Dommartin 2 published a thesis on CM in twins in which he reviewed previous cases of monozygotic twins who were concordant for the disease. Then, he described one case in which only one of a pair of dizygotic twins was affected. In all of the literature we found descriptions of two pairs of dizygotic twins discordant for CM, eight pairs for monozygotic twins both of whom had the disease, 3,4 and three pairs of monozygotic twins discordant for the disease. 3 Moreover, a set of monozygotic triplets, all of whom were affected with CM, has been described. 5 We report a fourth instance of discordance for CM in monozygotic twins and review some possible explanations for this occurrence. Report of a Case Four-year-old male twins were seen because of fixed skin lesions, present in one boy,

Myelomonocytic leukaemia with a preleukaemic syndrome and Ph1 chromosome in monozygotic twins.

A case of monozygotic twins with a preleukaemic phase of 3 1/2 years is reported. The final haematological picture was that of myelomonocytic leukaemia. The karyotype investigated in one twin during the final period of the disease showed a Ph1 chromosome.

A case of monozygotic twin in Down's syndrome

A case of monozygotic twin in Down's syndrome

Chromosome studies in early infantile autism.

IN THE SEARCH for etiological consistencies in early infantile autism, hereditary factors have not been considered a salient feature in the clinical picture,^1-7nor have they appeared to be a very promising approach for research. A partial explanation for this is that the parents and the siblings of these children appear remarkably free of major mental illnesses and this fact would not tend to support the presence of genetic factors. There is, however, an interesting but not fully documented finding that suggests a more prominent role for genetic influences in this illness. There are indications that extremely high concordance rates may exist among those homozygous twins who are afflicted with infantile autism. In 1957 Chapman reported three cases of identical twins, two recorded in the previous literature and one case of his own, who were concordant for early infantile autism.⁸Vaillant, in 1963,

Sleep and dream patterns in twins. Markov analysis of a genetic trait.

As early as 1936, Davis and Davis [1] reported on the influence of heredity on electroencephalograms (EEGs) by the direct method of studying twins. The inheritance of monozygotic (MZ) twins would be similar while that of dizygotic (DZ) twins would have variable heredity the same as that of ordinary siblings. They found that the waking alpha rhythms from one MZ twin resembled those from the other as closely as the record of the same person on successive recordings. Raney [2] in studying lateral dominance of the EEG in MZ twins concluded that the EEGs of identical twins are more similar than those of unrelated children only when treated as a group. Lennox and Gibbs [3] studied EEGs of normal and epileptic twins and concluded that, although epilepsy per se was not hereditary, cerebral dysrhythmia was. They further suggested that the EEG could be used as evidence in decisions dealing with the zygosity of twins and in tracing the heredity of abnormal cerebral rhythms. Using the concept that characteristics which can be shown to appear regularly in MZ twins and irregularly in DZ twins as evidence of the hereditary nature of any given trait, Lennox, Gibbs, and Gibbs [4] studied the waking alpha tracings of MZ and DZ twins. The EEG records were judged identical in 85% of the cases in MZ twins and alike in only 5% of the DZ twin group. Vogel [5] analyzed various EEG traits in 208 pairs of twins and found good agreement in MZ twins. Tangheroni and Pardelli [6] reported complete identity of EEG tracings between MZ couples but rhythms of discordant frequency and morphology in DZ couples.

Autosomal Trisomy in a Discordant Monozygotic Twin

TURPIN et al.1 investigated a patient with Turner's syndrome who was found to have an apparently normal twin brother. Analysis of blood groups, plasma proteins and secretor status showed that they were probably monozygotic (P = 0.0075), and reciprocal transplants of skin tissue showed no signs of rejection after 78 days2. Chromosome analysis revealed an XO karyotype in the patient and an XY sex chromosome constitution in the normal brother. Since then, five other cases of monozygotic twins with discordant karyotypes have been described3–7. This communication describes a case of autosomal trisomy in an amorphous monozygotic twin.

Factors precipitating and predisposing to R. A. as illustrated by studies on monozygotic twins.

SummaryAn attempt was made to elucidate the relative importance of heredity and exogenous factors in the etiology of rheumatoid arthritis by a study of the concordance rate in monozygotic twins. Four sets of such monozygotic twins are reported and discussed. Three of them were discordant and one concordant, but with an atypical syndrome. When added to previously published cases in monozygotic twins, these cases bring the number up to 50 sets of monozygotic twins with rheumatoid arthritis 32 or 64 % of whom have shown discordance. It is concluded that an exogenous factor must be operative.

Die Sprachentwicklung von Ein-und Zweieiigen Zwillingen und die Vererbung von Sprachstörungen

SummaryThe genetic roots of speech development in children are being investigated. On the basis of observations in the development of speech in 12 monozygotic twin pairs it could be shown that not only the retarded but also the normal development of speech is an idiotypic characteristic. It must be considered however, that we are not dealing with a simple characteristic, but with the result of a whole complex (intelligence, type of immagination, fine-motor and vitality) of the mentioned root. Further examinations regard the disposition for stammering. On the basis of research with monozygotic twins, of which one partner during the examination presented only signs of cluttering, the other one, however, clonic-tonic stammering, while both twins had a pathologic electroencephalogram, the hereditary basis of speech defects and stammering is shown. However, only in half of the cases of monozygotic twins one can find a disposition for dyslalia, which can be of a very different (periphercentral) nature.

Oxycéphalie chez trois paires de jumeaux univitellins, associée dans un des cas à une cutis frontis gyrata

Description of 3 cases of identical twins affected by concordant oxycephaly. In the first case, one of the twins had a son who was likewise afflicted by a typical scaphocephaly. In the second case, both children showed also a convergent concomitant strabismus, which was latent in one and manifest in the other, and moreover a concordant ptosis. In the third case, the oxycephaly was associated with cutis frontis gyrata homologous in both twins.A confrontation of the cases of oxycephaly in identical twins based on the literature and our personal cases, shows clearly a majority in favour of concordance : 25 concordant pairs as compared to 10 discordant ones; the fraternal twins (7-8 cases) are all discordant as regards oxycephaly. The cases of discordant oxycephaly in monozygotic twins must therefore be interpreted as the result of an unstable gene of feeble penetrance. The conclusion of the genotypic origin of oxycephaly is corroborated by some pedigrees showing a transmission through 2 or more generations. Two reported cases with consanguinity of the parents suggest likewise the possibility of recessive inheritance.The association of oxycephaly with cutis frontis gyrata, as observed in our third case, having not yet been described, we cannot for the moment decide whether this combination is due to chance or whether there exists a pathogenic correlation between both anomalies.