Acta geneticae medicae et gemellologiae最新文献

{"title":"\"Mother's child\" and \"father's child\" among twins. A longitudinal twin study from pregnancy to 21 years age, with special reference to development and psychiatric disorders.","authors":"I Moilanen,&nbsp;P Pennanen","doi":"10.1017/s0001566000000453","DOIUrl":"https://doi.org/10.1017/s0001566000000453","url":null,"abstract":"<p><p>234 pairs of twins were studied from pregnancy up to 21 years of age on the basis of records from maternity hospitals, neonatal wards and children's health centres and questionnaires filled in by the parents when the twins were aged 2-10 and 12-21 years, and by the twins themselves at age 12-21. 74 twins were personally interviewed about human relationships in their families and with the Present State Examination (PSE) at age 15-21. When the evaluation of parental preference was made by the parents, the mother's favourites had learned to speak earlier and were more often the psychic leader of the pair, but they more often had sleeping difficulties and other psychosomatic symptoms in adolescence. They were most often scored in class 2-3, non-specific neurotic symptoms in the PSE, but none of them was placed in the higher classes of possible or probable psychiatric disorder. Mothers seem to develop a tighter affectionate bond towards their favourites than do fathers, thus inducing a good basic trust and faster language acquisition in childhood, but probably also transient non-specific neurotic symptoms in adolescence in face of the developmental task of entering autonomous adulthood. The father's favorites were more often the physical leaders of the pair, showed less accident proneness and most often reported tendencies towards autonomy from their co-twins, thus indicating that the fathers' attitudes may be more encouraging towards independence. As the least psychosomatic symptoms were seen in twins in the intermediate position regarding parental preference, it seems reasonable that the division of twins between parents on the grounds of favouritism should not be strict.</p>","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"46 4","pages":"219-30"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000453","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20770678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"René Zazzo (1910-1995) and his contribution to the study of twins: Notes from a meeting","authors":"P. Parisi","doi":"10.1017/S0001566000000866","DOIUrl":"https://doi.org/10.1017/S0001566000000866","url":null,"abstract":"A meeting honoring the memory of the great French psychologist Rene Zazzo, one year after his death on 20 September 1995, was convened by the University of Turin on 15 November 1996. The meeting was attended by some of Zazzo's former students, collaborators and friends from Italy and France, as well as by Mrs Bianka Zazzo and by a number of twins and their families involved in starting a local twin club. The initiative was taken by Dr. Liana Valente Torre of the local Department of Psychology, who had already organized a meeting on \"Twins and the Double\" back in 1989, which had been introduced by Zazzo himself and had been largely devoted to the exploration of his perspective and contribution by scholars in a variety of areas, from psychology to psychoanalysis, philosophy and biology (see / gemelli: il vissuto del doppio, La Nuova Italia, Firenze 1989). Interested in child psychology since the early 1930s, Zazzo played an influential role as a researcher and thinker for about half a century. He was Head of the Laboratory of Clinical Psychology at the Henri Rousselle Hospital in Paris from 1940 to 1980, Researcher at the National Research Council from 1945 to 1951, Director of the Laboratory of Child Psychobiology at the Ecole Pratique des Hautes Etudes and Professor of Psychology at the University of Paris from 1950 to 1980, and finally Professor Emeritus until 1985. He received honorary degrees from the Universities of Brussels and Sherbrooke, Canada, as well as numerous other recognitions and awards. He published some twenty books and hundreds of articles, conceived and produced research films, and was for decades the editor of the journal of child psychology Enfance. Mobilized during World War II, he was then a leader in the Resistance against the nazi occupation as Secretary General of the Front National Universitaire and wrote influential articles in the Resistance journal. Zazzo became widely known to twin researchers worldwide following the publication of his classic book, \"Twins, the Couple and the Person\" back in 1960 (Les jumeaux, le couple et la personne, 2 vols., Presses Universitaires de France, Paris 1960, 2nd ed. 1986), to which he added, twenty-five years later, \"The Paradox of Twins\" (Le paradoxe des jumeaux, Stock/Laurence Pernoud, Paris 1984, 2nd ed. 1987). The essence of his contribution, based on hundreds of original observations along with in-depth analyses of classic accounts of literature, culture and myth, consists in the identification and description of the so-called \" couple effect\". By this he meant the influence that any couple, whether of twins or of any two individuals, has on the molding of personality, the couple being seen as a structure within which each of the two partners develops his/her own roles as a function of the partner's ones. In Zazzo's perspective, the couple has thus come to constitute in a way a microenvironment, to be seen as a \"third factor\" with respect to the general environment and the indivi","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"46 1","pages":"471-472"},"PeriodicalIF":0.0,"publicationDate":"1996-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87915151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contributions of Mouse Genetic Studies to Genomic Imprinting","authors":"B. Cattanach","doi":"10.1017/S0001566000001057","DOIUrl":"https://doi.org/10.1017/S0001566000001057","url":null,"abstract":"Maternal and paternal disomies and equivalent duplications for specific chromosome regions can readily be generated in the mouse. Most do not result in abnormality but for 10 regions distributed over 6 chromosomes developmental anomalies ranging from early embryonic lethalities to characteristic phenotypic abnormalities occur. With certain chromosome regions, maternal or paternal duplication leads to different and, in some cases, opposite anomalies so that, in total, 15 different imprinting effects can be distinguished. These observations have provided key evidence on the occurrence of imprinting in mammals. On the basis of the established homologies between mouse and human chromosomes, it is possible to predict which segments of the human genome are subject to equivalent imprinting. In this regard it is significant that candidate imprinting effects for the two classical examples of imprinting in humans, namely the Prader-Willi and Angelman syndromes, have been found in the mouse. Current studies are aimed at reducing the size of the imprinting regions with the objective of facilitating identification of the genes involved. Furthermore, the developmental profiles of genes already identified as being subject to imprinting are being determined. A new approach involves the analysis of a novel mutation that causes growth retardation and cranial abnormalities and which shows the inheritance pattern of an imprinted gene, as originally predicted by Hall (Am J Hum Genet 46: 857, 1990). It is anticipated that the mutation will represent a deletion and will lie within one of the recognised imprinting regions.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"3 1","pages":"17-17"},"PeriodicalIF":0.0,"publicationDate":"1996-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73542877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Use of Molecular Genetic Studies in Retinoblastoma","authors":"E. Passarge","doi":"10.1017/S0001566000001185","DOIUrl":"https://doi.org/10.1017/S0001566000001185","url":null,"abstract":"With a population incidence of about 1 in 15.000 retinoblastoma is the most frequent intraocular tumor in infancy and early childhood. It occurs in a hereditary form due to a germline mutation in about 40% of patients (30% de novo mutation and 10% transmis sion from an affected parent) and in a non-hereditary form due to a somatic mutation. The retinoblastoma gene is located on chromosome 13ql4. This large gene of about 180 kb, consists of 27 exons of rather different sizes and encodes a 4.7 kb transcript with important function in cell cycle regulation. Individuals with bilateral, multifocal tumors are assumed to carry a germline mutation, whereas unilateral and unifocal tumors are generally due to the somatic form. Both copies of the RBI gene must be in inactivated before a tumor develops. In about half of patients with the germline mutation the second event inactivating the second allele can be shown by loss of heterozygosity in tumor tis sues compared to surrounding somatic tissues. Knowledge of the RBI gene locus affords an opportunity to specify the type of muta tion in many patients and arrive at a definitive molecular diagnosis. This is the basis for clinical evaluation and genetic counseling. The types of mutation are large scale dele tions, small deletions and insertions, and base substitutions. There is no hot-spot for mutations.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"184 1","pages":"109-109"},"PeriodicalIF":0.0,"publicationDate":"1996-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83435747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"No Evidence for Monoallelic Expression of Gnas and Fourteen Other Genes in the Distal Region of Mouse Chromosome 2","authors":"C. Williamson, E. R. Dutton, C. Abbot, C. Beechey, S. Ball, J. Peters","doi":"10.1017/S000156600000146X","DOIUrl":"https://doi.org/10.1017/S000156600000146X","url":null,"abstract":"","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"47 1","pages":"281-282"},"PeriodicalIF":0.0,"publicationDate":"1996-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75590754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"3-M Syndrome Clinical Phenotype is Still the Only Mean for Prenatal and Postnatal Diagnosis","authors":"E. Lapi, A. Cecconi, M. L. Uzielli, N. Salfi, L. Guarino","doi":"10.1017/S0001566000001495","DOIUrl":"https://doi.org/10.1017/S0001566000001495","url":null,"abstract":"","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"12 1","pages":"293-293"},"PeriodicalIF":0.0,"publicationDate":"1996-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78694609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic imprinting of IGF2/H19 in Normal, Hyperplastic and Neoplastic Cells","authors":"R. Ohlsson, T. Ekström, G. Adam, Stephen J. Miller, H. Cui, R. Fisher, C. Walsh","doi":"10.1017/S0001566000001161","DOIUrl":"https://doi.org/10.1017/S0001566000001161","url":null,"abstract":"Genetic imprinting implies the preferential or exclusive expression of one of the parental alleles of a subset of autosomal loci. The insulin-like growth factor II (IGF2) and H19 loci are particularly interesting examples of this phenomenon since their products appear to display growth agonistic and antagonistic properties, respectively. In addition, IGF2 and H19 are only 90 kb apart, are expressed from opposite parental alleles [1,2] and show a striking similarity in their spatial expression patterns during human prenatal development [3]. One exception is the choroid plexus and leptomeninges which express IGF2 biallically with no detectable H19 expression [3]. Observations like these have fuelled ideas that there is an enhancer competition between the IGF2 and HI 9 loci [4]. The imprinting status of the H19 locus would then indirectly control the expressivity of IGF2. This model is likely to be too simple since the PI promoter of IGF2 is not func tionally imprinted during liver development in humans [4]. Moreover, while the liver P2-P4 promoters are expressed primarily from the paternally derived allele during human prenatal development, the P2-P4 promoters can be expressed from both parental alleles in complex patterns during postnatal human development [5]. The enhancer com petition model might be put to the test in human and mouse uniparental embryos since the parental origin of their diploid genomes cannot be discerned. Unexpectedly, H19 which is expressed preferentially from the maternal allele in mouse [6] and human [7] placenta is expressed in both mouse and human trophoblasts (in complete hydatidiform moles) lacking the maternal genome. In the normal human placenta, the repressed pater nal","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 1","pages":"91-92"},"PeriodicalIF":0.0,"publicationDate":"1996-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87469303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parental Imprinting on Mouse Chromosome 7","authors":"A. Ferguson-Smith","doi":"10.1017/S0001566000001070","DOIUrl":"https://doi.org/10.1017/S0001566000001070","url":null,"abstract":"Genetic studies have shown that both a maternally and paternally inherited copy of mouse chromosome 7 are essential for normal embryogenesis. When the parental dosage is altered, such as in maternal or paternal uniparental disomy for chromosome 7 (UPD7), the resulting embryos die. This is due to the altered dosage of imprinted genes which are normally expressed only from the paternally or maternally inherited chromosome homo-logue. Several genes on mouse chromosome 7 are subject to parental imprinting. Mutant phenotypes seen in UPD7 embryos and chimaeras can be explained by the altered dosage of some of these genes. The mechanism(s) that causes genes to be expressed in a parental origin specific manner has not yet been determined but is believed to involve germline specific modifi cations to DNA and/or chromatin which are acted upon after fertilisation to affect the activity of imprinted genes. Two genes, H19 and Igf2, are located 90kb apart on the distal end of chromosome 7 and are imprinted reciprocally with the maternally inherited allele of HI9 and paternally inherited allele of Igf2 being expressed. We have used UPD7 embryos to identify epigenetic modifications that distinguish the two parental alleles in the H19 and Igf2 domain by comparing DNA and chromatin from normal and maternal UPD cobceptuses. Clear cut differences in DNA methylation and chromatin compaction were observed for the H19 gene with the paternal allele exhibiting promoter methylation and nuclease insensitivity. These were not found in sperm. In addition, no major differ ences were noted for the Igf2 gene, although subtle parental origin specific modifications were found. These studies suggest that the two genes may share a common regulatory mechanism which controls their reciprocal imprinting.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"217 1","pages":"41-41"},"PeriodicalIF":0.0,"publicationDate":"1996-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79707248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prader-Willi and Angelman Syndromes and the Implications of Genomic Imprinting in Their Etiology","authors":"S. Cassidy","doi":"10.1017/S0001566000001045","DOIUrl":"https://doi.org/10.1017/S0001566000001045","url":null,"abstract":"The unfolding of the genetic story of Prader-Willi and Angelman syndromes provided the first recognition of human genomic imprinting. These disorders, which are clinically very distinct, are related through their genomic proximity and the inverse direction of the imprinting which affects them. Both are interesting disorders in themselves, especially in that both have distinctive behavioral patterns among their clinical features that may teach us much about normal human behavior. Prader-Willi syndrome (PWS) is a complex multi-system condition whose major fea tures include infantile hypotonia with decreased arousal, poor suck and failure-to-thrive; characteristic dysmorphic facial features; hypopigmentation; childhood onset of obesity due to lack of satiety; hypogonadotropic hypogonadism with genital hypoplasia and delayed and incomplete puberty; short stature for genetic background; developmental delay and usually mild mental retardation; and a characteristic behavioral disturbance with temper tantrums and obsessive-compulsive behavior. PWS occurs in about 1/15,000 people. Since its first description in 1956, it has been apparent that many of these fea tures arise from insufficient function of the hypothalamus, and recent identification of neurosecretory growth hormone insufficiency and temperature and sleep regulation abnormalities support this. However, no visible gross or microscopic abnormalities of the hypothalamus are seen on neuropathology. The finding of a chromosome 15ql 1-13 deletion in a proportion of patients with PWS by Ledbetter and colleagues in 1981 was the first window to the exciting genetic discoveries of the past decade, including recog nition (initially by Butler and Palmer) that the deletion is always on the paternally-derived chromosome 15 in PWS, and the finding by Nicholls and coworkers that the vast majority of the remainder of patients had","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"74 1","pages":"15-16"},"PeriodicalIF":0.0,"publicationDate":"1996-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75074562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unusual Clinical Findings in Prader-Willi Syndrome Patients with Uniparental Disomy","authors":"A. Schulze, M. Petersen, N. Horn, K. Kastrup, K. Brøndum‐Nielsen","doi":"10.1017/S0001566000001422","DOIUrl":"https://doi.org/10.1017/S0001566000001422","url":null,"abstract":"Eight patients with Prader-Willi syndrome (PWS), 3 males and 5 females, who were shown to have uniparental maternal disomy after investigation with polymorphic DNA marker spanning chromosome 15, were investigated clinically. Four patients displayed in addition to the clinical signs, some unusual clinical feature: two patients showed a hairshaft anomaly, one of whom, a female, suggested a Menkes'-like condition-an investigation of copper uptake showed slightly increased values. Further investigations are in progress. One patient died unexpectedly at the age of 1 year 4 months and adenovirus was isolated postmortem in the airway secretion. Two patients presented a seizure disorder. The mean birth weight was 2,122 (1,195-3,170) g and the gestational age was 37.1 (32-42) weeks for this group, lower than expected for PWS. Mean maternal age was elevated [31.9 (25-39) year]. Since the recent report [1] of a case of Bloom syndrome in a PWS patient led to the mapping of the Bloom syndrome gene to chromosome 15, it has been suggested that isodisomy could lead to homozygosity for recessive genes. This opens up the possibility of mapping genes in a new way. We suggest that uniparental disomy PWS patients should be investigated for unusual features to identify other monogenic disorders with a locus on chromosome 15. Isodisomy defined by multiple DNA markers indicates potential regions of candidate genes.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"77 1","pages":"263-263"},"PeriodicalIF":0.0,"publicationDate":"1996-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74820030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}